Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY) View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-12

AUTHORS

Xiuzhen Li, Tzer Hwu Ting, Huiying Sheng, Cui Li Liang, Yongxian Shao, Minyan Jiang, Aijing Xu, Yunting Lin, Li Liu

ABSTRACT

BACKGROUND: There is scarcity of information on the clinical features and genetics of glucokinase-maturity-onset diabetes of the young (GCK-MODY) in China. The aim of the study was to investigate the clinical and molecular characteristics of Chinese children with GCK-MODY. METHODS: Eleven children with asymptomatic hyperglycemia and clinically suspected GCK-MODY were identified from the database of children with diabetes in the biggest children's hospital in South China. Clinical data were obtained from medical records. Blood was collected from the patients and their parents for glucokinase (GCK) gene analysis. Parents without diabetes were tested for fasting glucose and HbA1c. Clinical information and blood for GCK gene analysis were obtained from grandparents with diabetes. GCK gene mutational analysis was performed by polymerase chain reaction and direct sequencing. Patients without a GCK gene mutation were screened by targeted next-generation sequencing (NGS) technology for other MODY genes. RESULTS: Nine children tested positive for GCK gene mutations while two were negative. The nine GCK-MODY patients were from unrelated families, aged 1 month to 9 years and 1 month at first detection of hyperglycaemia. Fasting glucose was elevated (6.1-8.5 mmol/L), HbA1c 5.2-6.7% (33.3-49.7 mmol/mol), both remained stable on follow-up over 9 months to 5 years. Five detected mutations had been previously reported: p.Val182Met, c.679 + 1G > A, p.Gly295Ser, p.Arg191Gln and p.Met41Thr. Four mutations were novel: c.483 + 2 T > A, p.Ser151del, p.Met57GlyfsX29 and p.Val374_Ala377del. No mutations were identified in the other two patients, who were also tested by NGS. CONCLUSIONS: GCK gene mutations are detected in Chinese children and their family members with typical clinical features of GCK-MODY. Four novel mutations are detected. More... »

PAGES

101

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s12887-018-1060-8

DOI

http://dx.doi.org/10.1186/s12887-018-1060-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1101361273

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29510678


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1103", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Clinical Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child, Preschool", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "China", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA Mutational Analysis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Diabetes Mellitus, Type 2", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Follow-Up Studies", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Markers", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Glucokinase", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Infant", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Prognosis", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Guangzhou Women and Children Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.413428.8", 
          "name": [
            "Department of Genetics and Endocrinology, Guangzhou Women and Children\u2019s Medical Center, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Li", 
        "givenName": "Xiuzhen", 
        "id": "sg:person.01250343530.12", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01250343530.12"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Universiti Putra Malaysia", 
          "id": "https://www.grid.ac/institutes/grid.11142.37", 
          "name": [
            "Department of Paediatrics, Faculty of Medicine & Health Sciences, University Putra Malaysia, 43400, Serdang, Selangor, Malaysia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ting", 
        "givenName": "Tzer Hwu", 
        "id": "sg:person.010047623175.15", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010047623175.15"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Guangzhou Women and Children Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.413428.8", 
          "name": [
            "Department of Genetics and Endocrinology, Guangzhou Women and Children\u2019s Medical Center, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sheng", 
        "givenName": "Huiying", 
        "id": "sg:person.0641166030.89", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0641166030.89"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Guangzhou Women and Children Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.413428.8", 
          "name": [
            "Department of Genetics and Endocrinology, Guangzhou Women and Children\u2019s Medical Center, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Liang", 
        "givenName": "Cui Li", 
        "id": "sg:person.0734761772.94", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0734761772.94"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Guangzhou Women and Children Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.413428.8", 
          "name": [
            "Department of Genetics and Endocrinology, Guangzhou Women and Children\u2019s Medical Center, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Shao", 
        "givenName": "Yongxian", 
        "id": "sg:person.015256412453.38", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015256412453.38"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Guangzhou Women and Children Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.413428.8", 
          "name": [
            "Department of Genetics and Endocrinology, Guangzhou Women and Children\u2019s Medical Center, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Jiang", 
        "givenName": "Minyan", 
        "id": "sg:person.01344137472.04", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01344137472.04"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Guangzhou Women and Children Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.413428.8", 
          "name": [
            "Department of Genetics and Endocrinology, Guangzhou Women and Children\u2019s Medical Center, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Xu", 
        "givenName": "Aijing", 
        "id": "sg:person.015504276157.64", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015504276157.64"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Guangzhou Women and Children Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.413428.8", 
          "name": [
            "Department of Genetics and Endocrinology, Guangzhou Women and Children\u2019s Medical Center, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lin", 
        "givenName": "Yunting", 
        "id": "sg:person.014461032053.79", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014461032053.79"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Guangzhou Women and Children Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.413428.8", 
          "name": [
            "Department of Genetics and Endocrinology, Guangzhou Women and Children\u2019s Medical Center, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Liu", 
        "givenName": "Li", 
        "id": "sg:person.01126317362.17", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01126317362.17"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1046/j.1464-5491.1999.00188.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001850923"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.str.2004.02.005", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010200589"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000354219", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013990681"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1515/jpem-2015-0354", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018677439"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5201347", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018928186", 
          "https://doi.org/10.1038/sj.ejhg.5201347"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5201347", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018928186", 
          "https://doi.org/10.1038/sj.ejhg.5201347"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0065326", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019653678"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/pedi.12179", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021305877"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-5448.2011.00827.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028496511"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2265.2007.02921.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032618668"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/pedi.12186", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034290778"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.21110", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035867504"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.21110", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035867504"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejm199303113281005", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037407303"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.diabres.2006.03.002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037963063"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s001250051531", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042212307", 
          "https://doi.org/10.1007/s001250051531"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s001250051531", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042212307", 
          "https://doi.org/10.1007/s001250051531"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0029500", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044884260"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00125-008-0942-y", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046141285", 
          "https://doi.org/10.1007/s00125-008-0942-y"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00125-008-0942-y", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046141285", 
          "https://doi.org/10.1007/s00125-008-0942-y"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00125-008-0942-y", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046141285", 
          "https://doi.org/10.1007/s00125-008-0942-y"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-5448.2009.00499.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048228458"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.4093/dmj.2015.39.6.468", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049473043"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.2337/dc08-2018", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050279639"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.2337/dc14-2769", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051921592"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.2337/dc14-2769", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051921592"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1001/jama.2013.283980", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053402952"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1089/dia.2013.0244", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059249909"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1079029024", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2018-12", 
    "datePublishedReg": "2018-12-01", 
    "description": "BACKGROUND: There is scarcity of information on the clinical features and genetics of glucokinase-maturity-onset diabetes of the young (GCK-MODY) in China. The aim of the study was to investigate the clinical and molecular characteristics of Chinese children with GCK-MODY.\nMETHODS: Eleven children with asymptomatic hyperglycemia and clinically suspected GCK-MODY were identified from the database of children with diabetes in the biggest children's hospital in South China. Clinical data were obtained from medical records. Blood was collected from the patients and their parents for glucokinase (GCK) gene analysis. Parents without diabetes were tested for fasting glucose and HbA1c. Clinical information and blood for GCK gene analysis were obtained from grandparents with diabetes. GCK gene mutational analysis was performed by polymerase chain reaction and direct sequencing. Patients without a GCK gene mutation were screened by targeted next-generation sequencing (NGS) technology for other MODY genes.\nRESULTS: Nine children tested positive for GCK gene mutations while two were negative. The nine GCK-MODY patients were from unrelated families, aged 1\u00a0month to 9\u00a0years and 1\u00a0month at first detection of hyperglycaemia. Fasting glucose was elevated (6.1-8.5\u00a0mmol/L), HbA1c 5.2-6.7% (33.3-49.7\u00a0mmol/mol), both remained stable on follow-up over 9\u00a0months to 5\u00a0years. Five detected mutations had been previously reported: p.Val182Met, c.679\u2009+\u20091G\u2009>\u2009A, p.Gly295Ser, p.Arg191Gln and p.Met41Thr. Four mutations were novel: c.483\u2009+\u20092\u00a0T\u2009>\u2009A, p.Ser151del, p.Met57GlyfsX29 and p.Val374_Ala377del. No mutations were identified in the other two patients, who were also tested by NGS.\nCONCLUSIONS: GCK gene mutations are detected in Chinese children and their family members with typical clinical features of GCK-MODY. Four novel mutations are detected.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1186/s12887-018-1060-8", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1024635", 
        "issn": [
          "1471-2431"
        ], 
        "name": "BMC Pediatrics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "18"
      }
    ], 
    "name": "Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)", 
    "pagination": "101", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "9034196424b3810d59b74f81566976c91e4e66c04503bfa360099ec20f7631e3"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "29510678"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "100967804"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/s12887-018-1060-8"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1101361273"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/s12887-018-1060-8", 
      "https://app.dimensions.ai/details/publication/pub.1101361273"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T11:03", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000352_0000000352/records_60357_00000003.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1186%2Fs12887-018-1060-8"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/s12887-018-1060-8'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s12887-018-1060-8'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s12887-018-1060-8'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s12887-018-1060-8'


 

This table displays all metadata directly associated to this object as RDF triples.

254 TRIPLES      21 PREDICATES      66 URIs      35 LITERALS      23 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/s12887-018-1060-8 schema:about N05da364b78e145e3be272ec9f5bc9dfb
2 N0ea144ea4dd14e3db2079b243804c543
3 N21d872a8c495492788700bad2495bb67
4 N249a5dc3ee5c464992db443449a1f634
5 N2e9caac409c043b1a51ca7800dc825cf
6 N425d7cccb62342d9a66eb1163eec5824
7 N4599fdcba3924abfbd2ed2f190924b40
8 N60d80837bf994cffb787bf2f273df55d
9 N621772b88fc04fe4a9c488f48bcdc5c3
10 N6bf4f28121fa49388add919a317724f7
11 N74aea3bf09a14cad8c9e17656b059dc3
12 Nd6114d90af084564b8c7677d9f6a7c8f
13 Ndf847f686fa34d689e1125c068ef24a6
14 Nf6ba51edf36e4915a969b3a1e9b1fe21
15 anzsrc-for:11
16 anzsrc-for:1103
17 schema:author N17fb785156954c5d88d37b636b5f9f01
18 schema:citation sg:pub.10.1007/s00125-008-0942-y
19 sg:pub.10.1007/s001250051531
20 sg:pub.10.1038/sj.ejhg.5201347
21 https://app.dimensions.ai/details/publication/pub.1079029024
22 https://doi.org/10.1001/jama.2013.283980
23 https://doi.org/10.1002/humu.21110
24 https://doi.org/10.1016/j.diabres.2006.03.002
25 https://doi.org/10.1016/j.str.2004.02.005
26 https://doi.org/10.1046/j.1464-5491.1999.00188.x
27 https://doi.org/10.1056/nejm199303113281005
28 https://doi.org/10.1089/dia.2013.0244
29 https://doi.org/10.1111/j.1365-2265.2007.02921.x
30 https://doi.org/10.1111/j.1399-5448.2009.00499.x
31 https://doi.org/10.1111/j.1399-5448.2011.00827.x
32 https://doi.org/10.1111/pedi.12179
33 https://doi.org/10.1111/pedi.12186
34 https://doi.org/10.1159/000354219
35 https://doi.org/10.1371/journal.pone.0029500
36 https://doi.org/10.1371/journal.pone.0065326
37 https://doi.org/10.1515/jpem-2015-0354
38 https://doi.org/10.2337/dc08-2018
39 https://doi.org/10.2337/dc14-2769
40 https://doi.org/10.4093/dmj.2015.39.6.468
41 schema:datePublished 2018-12
42 schema:datePublishedReg 2018-12-01
43 schema:description BACKGROUND: There is scarcity of information on the clinical features and genetics of glucokinase-maturity-onset diabetes of the young (GCK-MODY) in China. The aim of the study was to investigate the clinical and molecular characteristics of Chinese children with GCK-MODY. METHODS: Eleven children with asymptomatic hyperglycemia and clinically suspected GCK-MODY were identified from the database of children with diabetes in the biggest children's hospital in South China. Clinical data were obtained from medical records. Blood was collected from the patients and their parents for glucokinase (GCK) gene analysis. Parents without diabetes were tested for fasting glucose and HbA1c. Clinical information and blood for GCK gene analysis were obtained from grandparents with diabetes. GCK gene mutational analysis was performed by polymerase chain reaction and direct sequencing. Patients without a GCK gene mutation were screened by targeted next-generation sequencing (NGS) technology for other MODY genes. RESULTS: Nine children tested positive for GCK gene mutations while two were negative. The nine GCK-MODY patients were from unrelated families, aged 1 month to 9 years and 1 month at first detection of hyperglycaemia. Fasting glucose was elevated (6.1-8.5 mmol/L), HbA1c 5.2-6.7% (33.3-49.7 mmol/mol), both remained stable on follow-up over 9 months to 5 years. Five detected mutations had been previously reported: p.Val182Met, c.679 + 1G > A, p.Gly295Ser, p.Arg191Gln and p.Met41Thr. Four mutations were novel: c.483 + 2 T > A, p.Ser151del, p.Met57GlyfsX29 and p.Val374_Ala377del. No mutations were identified in the other two patients, who were also tested by NGS. CONCLUSIONS: GCK gene mutations are detected in Chinese children and their family members with typical clinical features of GCK-MODY. Four novel mutations are detected.
44 schema:genre research_article
45 schema:inLanguage en
46 schema:isAccessibleForFree true
47 schema:isPartOf N0b94b76daef34e9aaaa9ecce6b6f2230
48 N1c7e87847522437aa5f02b4972a8f586
49 sg:journal.1024635
50 schema:name Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
51 schema:pagination 101
52 schema:productId N7f7ff0ee12154dea955391c5504494db
53 Nada50e68a81149edaeee77d06581ea12
54 Nb996faa1a5d646fd9dc7389d787d56f6
55 Nbdb47f91edbd4cf5998a9ba5b2aaa6d9
56 Nf7c646912f0a4334be30491cabb5608c
57 schema:sameAs https://app.dimensions.ai/details/publication/pub.1101361273
58 https://doi.org/10.1186/s12887-018-1060-8
59 schema:sdDatePublished 2019-04-11T11:03
60 schema:sdLicense https://scigraph.springernature.com/explorer/license/
61 schema:sdPublisher Nc5b99c3370a448aba21d383d8467c84b
62 schema:url https://link.springer.com/10.1186%2Fs12887-018-1060-8
63 sgo:license sg:explorer/license/
64 sgo:sdDataset articles
65 rdf:type schema:ScholarlyArticle
66 N05da364b78e145e3be272ec9f5bc9dfb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
67 schema:name Mutation
68 rdf:type schema:DefinedTerm
69 N0b94b76daef34e9aaaa9ecce6b6f2230 schema:volumeNumber 18
70 rdf:type schema:PublicationVolume
71 N0ea144ea4dd14e3db2079b243804c543 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
72 schema:name Diabetes Mellitus, Type 2
73 rdf:type schema:DefinedTerm
74 N17fb785156954c5d88d37b636b5f9f01 rdf:first sg:person.01250343530.12
75 rdf:rest N2dc287a0def9425290372fa2dec3149c
76 N1c7e87847522437aa5f02b4972a8f586 schema:issueNumber 1
77 rdf:type schema:PublicationIssue
78 N1cd09eb663444bbc8d03e5550399bae9 rdf:first sg:person.015504276157.64
79 rdf:rest Ndf1a604582054bab8a5980bf37ad023a
80 N21d872a8c495492788700bad2495bb67 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
81 schema:name China
82 rdf:type schema:DefinedTerm
83 N249a5dc3ee5c464992db443449a1f634 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
84 schema:name DNA Mutational Analysis
85 rdf:type schema:DefinedTerm
86 N2850e4a05dca455fba9a4635f885d83a rdf:first sg:person.01126317362.17
87 rdf:rest rdf:nil
88 N2dc287a0def9425290372fa2dec3149c rdf:first sg:person.010047623175.15
89 rdf:rest Nc251bce1fdee4b4dadf183f4282f64e1
90 N2e9caac409c043b1a51ca7800dc825cf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
91 schema:name Humans
92 rdf:type schema:DefinedTerm
93 N41c8d771fb4048b7b9428010bede9471 rdf:first sg:person.0734761772.94
94 rdf:rest N9a7e1781db9c440184cb21e5db3f9427
95 N425d7cccb62342d9a66eb1163eec5824 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
96 schema:name Prognosis
97 rdf:type schema:DefinedTerm
98 N4599fdcba3924abfbd2ed2f190924b40 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
99 schema:name Genetic Markers
100 rdf:type schema:DefinedTerm
101 N60d80837bf994cffb787bf2f273df55d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
102 schema:name Follow-Up Studies
103 rdf:type schema:DefinedTerm
104 N621772b88fc04fe4a9c488f48bcdc5c3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
105 schema:name Female
106 rdf:type schema:DefinedTerm
107 N6bf4f28121fa49388add919a317724f7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
108 schema:name Child, Preschool
109 rdf:type schema:DefinedTerm
110 N74aea3bf09a14cad8c9e17656b059dc3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
111 schema:name Infant
112 rdf:type schema:DefinedTerm
113 N7f7ff0ee12154dea955391c5504494db schema:name readcube_id
114 schema:value 9034196424b3810d59b74f81566976c91e4e66c04503bfa360099ec20f7631e3
115 rdf:type schema:PropertyValue
116 N9a7e1781db9c440184cb21e5db3f9427 rdf:first sg:person.015256412453.38
117 rdf:rest Nd7913681f3324c709e605220048fecca
118 Nada50e68a81149edaeee77d06581ea12 schema:name dimensions_id
119 schema:value pub.1101361273
120 rdf:type schema:PropertyValue
121 Nb996faa1a5d646fd9dc7389d787d56f6 schema:name nlm_unique_id
122 schema:value 100967804
123 rdf:type schema:PropertyValue
124 Nbdb47f91edbd4cf5998a9ba5b2aaa6d9 schema:name pubmed_id
125 schema:value 29510678
126 rdf:type schema:PropertyValue
127 Nc251bce1fdee4b4dadf183f4282f64e1 rdf:first sg:person.0641166030.89
128 rdf:rest N41c8d771fb4048b7b9428010bede9471
129 Nc5b99c3370a448aba21d383d8467c84b schema:name Springer Nature - SN SciGraph project
130 rdf:type schema:Organization
131 Nd6114d90af084564b8c7677d9f6a7c8f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
132 schema:name Male
133 rdf:type schema:DefinedTerm
134 Nd7913681f3324c709e605220048fecca rdf:first sg:person.01344137472.04
135 rdf:rest N1cd09eb663444bbc8d03e5550399bae9
136 Ndf1a604582054bab8a5980bf37ad023a rdf:first sg:person.014461032053.79
137 rdf:rest N2850e4a05dca455fba9a4635f885d83a
138 Ndf847f686fa34d689e1125c068ef24a6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
139 schema:name Child
140 rdf:type schema:DefinedTerm
141 Nf6ba51edf36e4915a969b3a1e9b1fe21 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
142 schema:name Glucokinase
143 rdf:type schema:DefinedTerm
144 Nf7c646912f0a4334be30491cabb5608c schema:name doi
145 schema:value 10.1186/s12887-018-1060-8
146 rdf:type schema:PropertyValue
147 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
148 schema:name Medical and Health Sciences
149 rdf:type schema:DefinedTerm
150 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
151 schema:name Clinical Sciences
152 rdf:type schema:DefinedTerm
153 sg:journal.1024635 schema:issn 1471-2431
154 schema:name BMC Pediatrics
155 rdf:type schema:Periodical
156 sg:person.010047623175.15 schema:affiliation https://www.grid.ac/institutes/grid.11142.37
157 schema:familyName Ting
158 schema:givenName Tzer Hwu
159 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010047623175.15
160 rdf:type schema:Person
161 sg:person.01126317362.17 schema:affiliation https://www.grid.ac/institutes/grid.413428.8
162 schema:familyName Liu
163 schema:givenName Li
164 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01126317362.17
165 rdf:type schema:Person
166 sg:person.01250343530.12 schema:affiliation https://www.grid.ac/institutes/grid.413428.8
167 schema:familyName Li
168 schema:givenName Xiuzhen
169 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01250343530.12
170 rdf:type schema:Person
171 sg:person.01344137472.04 schema:affiliation https://www.grid.ac/institutes/grid.413428.8
172 schema:familyName Jiang
173 schema:givenName Minyan
174 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01344137472.04
175 rdf:type schema:Person
176 sg:person.014461032053.79 schema:affiliation https://www.grid.ac/institutes/grid.413428.8
177 schema:familyName Lin
178 schema:givenName Yunting
179 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014461032053.79
180 rdf:type schema:Person
181 sg:person.015256412453.38 schema:affiliation https://www.grid.ac/institutes/grid.413428.8
182 schema:familyName Shao
183 schema:givenName Yongxian
184 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015256412453.38
185 rdf:type schema:Person
186 sg:person.015504276157.64 schema:affiliation https://www.grid.ac/institutes/grid.413428.8
187 schema:familyName Xu
188 schema:givenName Aijing
189 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015504276157.64
190 rdf:type schema:Person
191 sg:person.0641166030.89 schema:affiliation https://www.grid.ac/institutes/grid.413428.8
192 schema:familyName Sheng
193 schema:givenName Huiying
194 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0641166030.89
195 rdf:type schema:Person
196 sg:person.0734761772.94 schema:affiliation https://www.grid.ac/institutes/grid.413428.8
197 schema:familyName Liang
198 schema:givenName Cui Li
199 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0734761772.94
200 rdf:type schema:Person
201 sg:pub.10.1007/s00125-008-0942-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1046141285
202 https://doi.org/10.1007/s00125-008-0942-y
203 rdf:type schema:CreativeWork
204 sg:pub.10.1007/s001250051531 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042212307
205 https://doi.org/10.1007/s001250051531
206 rdf:type schema:CreativeWork
207 sg:pub.10.1038/sj.ejhg.5201347 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018928186
208 https://doi.org/10.1038/sj.ejhg.5201347
209 rdf:type schema:CreativeWork
210 https://app.dimensions.ai/details/publication/pub.1079029024 schema:CreativeWork
211 https://doi.org/10.1001/jama.2013.283980 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053402952
212 rdf:type schema:CreativeWork
213 https://doi.org/10.1002/humu.21110 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035867504
214 rdf:type schema:CreativeWork
215 https://doi.org/10.1016/j.diabres.2006.03.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037963063
216 rdf:type schema:CreativeWork
217 https://doi.org/10.1016/j.str.2004.02.005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010200589
218 rdf:type schema:CreativeWork
219 https://doi.org/10.1046/j.1464-5491.1999.00188.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1001850923
220 rdf:type schema:CreativeWork
221 https://doi.org/10.1056/nejm199303113281005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037407303
222 rdf:type schema:CreativeWork
223 https://doi.org/10.1089/dia.2013.0244 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059249909
224 rdf:type schema:CreativeWork
225 https://doi.org/10.1111/j.1365-2265.2007.02921.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1032618668
226 rdf:type schema:CreativeWork
227 https://doi.org/10.1111/j.1399-5448.2009.00499.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1048228458
228 rdf:type schema:CreativeWork
229 https://doi.org/10.1111/j.1399-5448.2011.00827.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1028496511
230 rdf:type schema:CreativeWork
231 https://doi.org/10.1111/pedi.12179 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021305877
232 rdf:type schema:CreativeWork
233 https://doi.org/10.1111/pedi.12186 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034290778
234 rdf:type schema:CreativeWork
235 https://doi.org/10.1159/000354219 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013990681
236 rdf:type schema:CreativeWork
237 https://doi.org/10.1371/journal.pone.0029500 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044884260
238 rdf:type schema:CreativeWork
239 https://doi.org/10.1371/journal.pone.0065326 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019653678
240 rdf:type schema:CreativeWork
241 https://doi.org/10.1515/jpem-2015-0354 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018677439
242 rdf:type schema:CreativeWork
243 https://doi.org/10.2337/dc08-2018 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050279639
244 rdf:type schema:CreativeWork
245 https://doi.org/10.2337/dc14-2769 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051921592
246 rdf:type schema:CreativeWork
247 https://doi.org/10.4093/dmj.2015.39.6.468 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049473043
248 rdf:type schema:CreativeWork
249 https://www.grid.ac/institutes/grid.11142.37 schema:alternateName Universiti Putra Malaysia
250 schema:name Department of Paediatrics, Faculty of Medicine & Health Sciences, University Putra Malaysia, 43400, Serdang, Selangor, Malaysia
251 rdf:type schema:Organization
252 https://www.grid.ac/institutes/grid.413428.8 schema:alternateName Guangzhou Women and Children Medical Center
253 schema:name Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China
254 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...