De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features.
J Hum Genet
; 63(8): 919-922, 2018 Jul.
Article
em En
| MEDLINE
| ID: mdl-29760529
ABSTRACT
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas Repressoras
/
Histona-Lisina N-Metiltransferase
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Códon sem Sentido
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Predisposição Genética para Doença
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Síndrome de Wolf-Hirschhorn
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Deficiência Intelectual
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
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Infant
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Male
Idioma:
En
Revista:
J Hum Genet
Ano de publicação:
2018
Tipo de documento:
Article