Ontology type: schema:ScholarlyArticle Open Access: True
2018-01-09
AUTHORSToshihiko Shirakawa, Yumiko Nakashima, Satoshi Watanabe, Sadatomo Harada, Mariko Kinoshita, Toshiharu Kihara, Yuko Hamasaki, Seiichiro Shishido, Koh-ichiro Yoshiura, Hiroyuki Moriuchi, Sumito Dateki
ABSTRACTGlioblastoma 2 (GLI2) is a mediator of Sonic hedgehog signaling pathway that plays an important role in development of the central nervous system and limbs. Heterozygous GLI2 mutations have been associated with postaxial polydactyly, various pituitary dysfunction, and holoprosencephaly-like phenotype. Herein, we report a Japanese boy who presented with isolated growth hormone deficiency with ectopic posterior pituitary, postaxial polydactyly, atrioventricular septal defect, intellectual disability and dysmorphic facial features including mid-facial hypoplasia. The patient was also complicated with congenital urethral stricture with megacystis, hydronephrosis, and renal hypoplasia/dysplasia, which led to end-stage renal failure by the age of 8 years. Trio-whole-exome sequencing showed a novel de novo heterozygous frameshift mutation in GLI2 (c.3369delG, p.Met1123Ilefs*7) in the patient. This is the first report of possible association between GLI2 mutation and the phenotype of congenital anomalies of the kidney and urinary tract, and subsequent end-stage renal failure. Further studies on the urogenital phenotype in patients with GLI2 mutations may clarify a role of GLI2 in embryonic development of the urinary tract. More... »
PAGES94-97
http://scigraph.springernature.com/pub.10.1007/s13730-018-0302-9
DOIhttp://dx.doi.org/10.1007/s13730-018-0302-9
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1100268305
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/29318530
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/2008/06",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Biological Sciences",
"type": "DefinedTerm"
},
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Genetics",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan",
"id": "http://www.grid.ac/institutes/grid.411873.8",
"name": [
"Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan"
],
"type": "Organization"
},
"familyName": "Shirakawa",
"givenName": "Toshihiko",
"id": "sg:person.01334740461.49",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01334740461.49"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan",
"id": "http://www.grid.ac/institutes/grid.411873.8",
"name": [
"Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan"
],
"type": "Organization"
},
"familyName": "Nakashima",
"givenName": "Yumiko",
"id": "sg:person.010662765213.63",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010662765213.63"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan",
"id": "http://www.grid.ac/institutes/grid.411873.8",
"name": [
"Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan"
],
"type": "Organization"
},
"familyName": "Watanabe",
"givenName": "Satoshi",
"id": "sg:person.01116536116.99",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01116536116.99"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan",
"id": "http://www.grid.ac/institutes/grid.411873.8",
"name": [
"Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan"
],
"type": "Organization"
},
"familyName": "Harada",
"givenName": "Sadatomo",
"id": "sg:person.015346377344.35",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015346377344.35"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan",
"id": "http://www.grid.ac/institutes/grid.411873.8",
"name": [
"Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan"
],
"type": "Organization"
},
"familyName": "Kinoshita",
"givenName": "Mariko",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Urology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan",
"id": "http://www.grid.ac/institutes/grid.174567.6",
"name": [
"Department of Urology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan"
],
"type": "Organization"
},
"familyName": "Kihara",
"givenName": "Toshiharu",
"id": "sg:person.01035137403.96",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01035137403.96"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pediatric Nephrology, Toho University Faculty of Medicine, Tokyo, Japan",
"id": "http://www.grid.ac/institutes/grid.265050.4",
"name": [
"Department of Pediatric Nephrology, Toho University Faculty of Medicine, Tokyo, Japan"
],
"type": "Organization"
},
"familyName": "Hamasaki",
"givenName": "Yuko",
"id": "sg:person.01161051063.21",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01161051063.21"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pediatric Nephrology, Toho University Faculty of Medicine, Tokyo, Japan",
"id": "http://www.grid.ac/institutes/grid.265050.4",
"name": [
"Department of Pediatric Nephrology, Toho University Faculty of Medicine, Tokyo, Japan"
],
"type": "Organization"
},
"familyName": "Shishido",
"givenName": "Seiichiro",
"id": "sg:person.0620006563.77",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0620006563.77"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan",
"id": "http://www.grid.ac/institutes/grid.174567.6",
"name": [
"Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan"
],
"type": "Organization"
},
"familyName": "Yoshiura",
"givenName": "Koh-ichiro",
"id": "sg:person.01304011603.19",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01304011603.19"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, 852-8501, Nagasaki, Japan",
"id": "http://www.grid.ac/institutes/grid.174567.6",
"name": [
"Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan",
"Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, 852-8501, Nagasaki, Japan"
],
"type": "Organization"
},
"familyName": "Moriuchi",
"givenName": "Hiroyuki",
"id": "sg:person.0646074221.31",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0646074221.31"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, 852-8501, Nagasaki, Japan",
"id": "http://www.grid.ac/institutes/grid.174567.6",
"name": [
"Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan",
"Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, 852-8501, Nagasaki, Japan"
],
"type": "Organization"
},
"familyName": "Dateki",
"givenName": "Sumito",
"id": "sg:person.01023477015.64",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01023477015.64"
],
"type": "Person"
}
],
"citation": [
{
"id": "sg:pub.10.1007/s003830100656",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1051757743",
"https://doi.org/10.1007/s003830100656"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng1403",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1053479258",
"https://doi.org/10.1038/ng1403"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nrn704",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1003579040",
"https://doi.org/10.1038/nrn704"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nrneph.2015.205",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1028931796",
"https://doi.org/10.1038/nrneph.2015.205"
],
"type": "CreativeWork"
}
],
"datePublished": "2018-01-09",
"datePublishedReg": "2018-01-09",
"description": "Glioblastoma 2 (GLI2) is a mediator of Sonic hedgehog signaling pathway that plays an important role in development of the central nervous system and limbs. Heterozygous GLI2 mutations have been associated with postaxial polydactyly, various pituitary dysfunction, and holoprosencephaly-like phenotype. Herein, we report a Japanese boy who presented with isolated growth hormone deficiency with ectopic posterior pituitary, postaxial polydactyly, atrioventricular septal defect, intellectual disability and dysmorphic facial features including mid-facial hypoplasia. The patient was also complicated with congenital urethral stricture with megacystis, hydronephrosis, and renal hypoplasia/dysplasia, which led to end-stage renal failure by the age of 8\u00a0years. Trio-whole-exome sequencing showed a novel de novo heterozygous frameshift mutation in GLI2 (c.3369delG, p.Met1123Ilefs*7) in the patient. This is the first report of possible association between GLI2 mutation and the phenotype of congenital anomalies of the kidney and urinary tract, and subsequent end-stage renal failure. Further studies on the urogenital phenotype in patients with GLI2 mutations may clarify a role of GLI2 in embryonic development of the urinary tract.",
"genre": "article",
"id": "sg:pub.10.1007/s13730-018-0302-9",
"isAccessibleForFree": true,
"isFundedItemOf": [
{
"id": "sg:grant.6536563",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.5903161",
"type": "MonetaryGrant"
}
],
"isPartOf": [
{
"id": "sg:journal.1050419",
"issn": [
"2192-4449"
],
"name": "CEN Case Reports",
"publisher": "Springer Nature",
"type": "Periodical"
},
{
"issueNumber": "1",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "7"
}
],
"keywords": [
"end-stage renal failure",
"renal hypoplasia/dysplasia",
"congenital urethral stricture",
"hypoplasia/dysplasia",
"renal failure",
"glioblastoma 2",
"urethral stricture",
"urinary tract",
"GLI2 mutations",
"novel de novo heterozygous frameshift mutation",
"postaxial polydactyly",
"isolated growth hormone deficiency",
"growth hormone deficiency",
"atrioventricular septal defect",
"central nervous system",
"dysmorphic facial features",
"mid-facial hypoplasia",
"heterozygous frameshift mutation",
"pituitary dysfunction",
"holoprosencephaly-like phenotype",
"septal defect",
"hormone deficiency",
"congenital anomalies",
"nervous system",
"possible association",
"patients",
"Japanese boy",
"exome sequencing",
"intellectual disability",
"Further studies",
"stricture",
"dysplasia",
"Sonic hedgehog",
"tract",
"polydactyly",
"phenotype",
"frameshift mutation",
"first report",
"mutations",
"failure",
"megacystis",
"hydronephrosis",
"dysfunction",
"hypoplasia",
"kidney",
"facial features",
"ectopic",
"important role",
"limb",
"age",
"disability",
"embryonic development",
"mediators",
"boys",
"association",
"role",
"deficiency",
"report",
"hedgehog",
"years",
"pathway",
"sequencing",
"development",
"study",
"defects",
"anomalies",
"features",
"Herein",
"system"
],
"name": "A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure",
"pagination": "94-97",
"productId": [
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1100268305"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1007/s13730-018-0302-9"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"29318530"
]
}
],
"sameAs": [
"https://doi.org/10.1007/s13730-018-0302-9",
"https://app.dimensions.ai/details/publication/pub.1100268305"
],
"sdDataset": "articles",
"sdDatePublished": "2022-08-04T17:08",
"sdLicense": "https://scigraph.springernature.com/explorer/license/",
"sdPublisher": {
"name": "Springer Nature - SN SciGraph project",
"type": "Organization"
},
"sdSource": "s3://com-springernature-scigraph/baseset/20220804/entities/gbq_results/article/article_787.jsonl",
"type": "ScholarlyArticle",
"url": "https://doi.org/10.1007/s13730-018-0302-9"
}
]
Download the RDF metadata as: json-ld nt turtle xml License info
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.10.1007/s13730-018-0302-9'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s13730-018-0302-9'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s13730-018-0302-9'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s13730-018-0302-9'
This table displays all metadata directly associated to this object as RDF triples.
229 TRIPLES
21 PREDICATES
98 URIs
86 LITERALS
7 BLANK NODES