Ontology type: schema:ScholarlyArticle
2018-08
AUTHORSEkaterina R. Lozier, Fedor A. Konovalov, Ilya V. Kanivets, Denis V. Pyankov, Philip A. Koshkin, Larisa S. Baleva, Alla E. Sipyagina, Elena N. Yakusheva, Anastasiya E. Kuchina, Sergey A. Korostelev
ABSTRACTIntellectual disability is the most common developmental disorder caused by chromosomal aberrations as well as single-nucleotide variants (SNVs) and small insertions/deletions (indels). Here we report identification of a novel, probably pathogenic mutation in the WHSC1 gene in a patient case with phenotype overlapping the features of Wolf-Hirschhorn syndrome. Deletions involving WHSC1 (Wolf-Hirschhorn syndrome candidate 1 gene) were described earlier in patients with Wolf-Hirschhorn syndrome. However, to our knowledge, single-point mutations in WHSC1 associated with any intellectual deficiency syndromes have not been reported. Using whole exome sequencing, we found a de novo nonsense mutation in WHSC1 (c.3412C>T, p.Arg1138Ter, NM_001042424.2) in patient with syndromic intellectual disability. This finding is challenging regarding a possible causative role of WHSC1 in intellectual disability syndromes, specifically Wolf-Hirschhorn syndrome. From the clinical standpoint, our finding suggests that next-generation sequencing along with chromosome microarray analysis (CMA) might be useful in genetic testing for patients with intellectual disability and dysmorphic features. More... »
PAGES919-922
http://scigraph.springernature.com/pub.10.1038/s10038-018-0464-5
DOIhttp://dx.doi.org/10.1038/s10038-018-0464-5
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1103970242
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/29760529
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/2008/0604",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Genetics",
"type": "DefinedTerm"
},
{
"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"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Amino Acid Sequence",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Base Sequence",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Codon, Nonsense",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Female",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genetic Predisposition to Disease",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Histone-Lysine N-Methyltransferase",
"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": "Intellectual Disability",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Male",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Pedigree",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Repressor Proteins",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Wolf-Hirschhorn Syndrome",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"name": [
"Genomed Ltd, Moscow, Russia"
],
"type": "Organization"
},
"familyName": "Lozier",
"givenName": "Ekaterina R.",
"id": "sg:person.0617201763.09",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0617201763.09"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"Genomed Ltd, Moscow, Russia"
],
"type": "Organization"
},
"familyName": "Konovalov",
"givenName": "Fedor A.",
"id": "sg:person.0651536772.36",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0651536772.36"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"Genomed Ltd, Moscow, Russia"
],
"type": "Organization"
},
"familyName": "Kanivets",
"givenName": "Ilya V.",
"id": "sg:person.01270555554.01",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01270555554.01"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"Genomed Ltd, Moscow, Russia"
],
"type": "Organization"
},
"familyName": "Pyankov",
"givenName": "Denis V.",
"id": "sg:person.014041647533.13",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014041647533.13"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"Genomed Ltd, Moscow, Russia"
],
"type": "Organization"
},
"familyName": "Koshkin",
"givenName": "Philip A.",
"id": "sg:person.01203440213.45",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01203440213.45"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"Scientific Clinical Institute of Pirogov Pediatric Russian National Medical University, Moscow, Russia"
],
"type": "Organization"
},
"familyName": "Baleva",
"givenName": "Larisa S.",
"id": "sg:person.01347743046.21",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01347743046.21"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"Scientific Clinical Institute of Pirogov Pediatric Russian National Medical University, Moscow, Russia"
],
"type": "Organization"
},
"familyName": "Sipyagina",
"givenName": "Alla E.",
"id": "sg:person.013316440243.26",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013316440243.26"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"Scientific Clinical Institute of Pirogov Pediatric Russian National Medical University, Moscow, Russia"
],
"type": "Organization"
},
"familyName": "Yakusheva",
"givenName": "Elena N.",
"id": "sg:person.014170605402.52",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014170605402.52"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"Scientific Clinical Institute of Pirogov Pediatric Russian National Medical University, Moscow, Russia"
],
"type": "Organization"
},
"familyName": "Kuchina",
"givenName": "Anastasiya E.",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Sechenov University",
"id": "https://www.grid.ac/institutes/grid.448878.f",
"name": [
"Genomed Ltd, Moscow, Russia",
"Sechenov University, Moscow, Russia"
],
"type": "Organization"
},
"familyName": "Korostelev",
"givenName": "Sergey A.",
"id": "sg:person.01335342175.32",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01335342175.32"
],
"type": "Person"
}
],
"citation": [
{
"id": "https://doi.org/10.1002/ajmg.c.30190",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1005667856"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.a.35299",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1011889729"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/nar/gkw1099",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022885794"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0968-0004(97)01140-7",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1024872075"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.tig.2005.01.008",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1025189808"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.c.31449",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1026751405"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.1203",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1044323003"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.12688/f1000research.7134.1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1053234349"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.12688/f1000research.7134.1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1053234349"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1086/367925",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1058662818"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1086/367925",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1058662818"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.celrep.2017.04.069",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1085565451"
],
"type": "CreativeWork"
}
],
"datePublished": "2018-08",
"datePublishedReg": "2018-08-01",
"description": "Intellectual disability is the most common developmental disorder caused by chromosomal aberrations as well as single-nucleotide variants (SNVs) and small insertions/deletions (indels). Here we report identification of a novel, probably pathogenic mutation in the WHSC1 gene in a patient case with phenotype overlapping the features of Wolf-Hirschhorn syndrome. Deletions involving WHSC1 (Wolf-Hirschhorn syndrome candidate 1 gene) were described earlier in patients with Wolf-Hirschhorn syndrome. However, to our knowledge, single-point mutations in WHSC1 associated with any intellectual deficiency syndromes have not been reported. Using whole exome sequencing, we found a de novo nonsense mutation in WHSC1 (c.3412C>T, p.Arg1138Ter, NM_001042424.2) in patient with syndromic intellectual disability. This finding is challenging regarding a possible causative role of WHSC1 in intellectual disability syndromes, specifically Wolf-Hirschhorn syndrome. From the clinical standpoint, our finding suggests that next-generation sequencing along with chromosome microarray analysis (CMA) might be useful in genetic testing for patients with intellectual disability and dysmorphic features.",
"genre": "research_article",
"id": "sg:pub.10.1038/s10038-018-0464-5",
"inLanguage": [
"en"
],
"isAccessibleForFree": false,
"isPartOf": [
{
"id": "sg:journal.1294984",
"issn": [
"1434-5161",
"1435-232X"
],
"name": "Journal of Human Genetics",
"type": "Periodical"
},
{
"issueNumber": "8",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "63"
}
],
"name": "De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features",
"pagination": "919-922",
"productId": [
{
"name": "readcube_id",
"type": "PropertyValue",
"value": [
"4686328a91fd49d3eddb3a5384df19a61cef3dc2aa9dbdf7e9db88c22f1451b6"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"29760529"
]
},
{
"name": "nlm_unique_id",
"type": "PropertyValue",
"value": [
"9808008"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1038/s10038-018-0464-5"
]
},
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1103970242"
]
}
],
"sameAs": [
"https://doi.org/10.1038/s10038-018-0464-5",
"https://app.dimensions.ai/details/publication/pub.1103970242"
],
"sdDataset": "articles",
"sdDatePublished": "2019-04-10T13:28",
"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/v90/0000000001_0000000264/records_8659_00000578.jsonl",
"type": "ScholarlyArticle",
"url": "https://www.nature.com/articles/s10038-018-0464-5"
}
]
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.10.1038/s10038-018-0464-5'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s10038-018-0464-5'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s10038-018-0464-5'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s10038-018-0464-5'
This table displays all metadata directly associated to this object as RDF triples.
232 TRIPLES
21 PREDICATES
52 URIs
34 LITERALS
22 BLANK NODES