De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-08

AUTHORS

Ekaterina 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

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. More... »

PAGES

919-922

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s10038-018-0464-5

DOI

http://dx.doi.org/10.1038/s10038-018-0464-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1103970242

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29760529


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