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

Journal of Human Genetics
Ekaterina R LozierSergey 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.

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Citations

Oct 23, 2018·American Journal of Medical Genetics. Part a·Nicole J BoczekRalitza H Gavrilova
Nov 1, 2018·Congenital Anomalies·Keiko Yamamoto-ShimojimaToshiyuki Yamamoto
Jun 7, 2019·Cold Spring Harbor Molecular Case Studies·Elizabeth S BarrieErik J Zmuda
Oct 5, 2019·Nature Structural & Molecular Biology·Dylan Husmann, Or Gozani
Jun 13, 2020·Annals of Clinical and Translational Neurology·Toshimitsu SuzukiKazuhiro Yamakawa
Aug 15, 2020·Orphanet Journal of Rare Diseases·Andrey V MarakhonovMarta Corton
Mar 15, 2020·Progress in Neuro-psychopharmacology & Biological Psychiatry·Wenxin LiuDonghong Cui
May 5, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Paolo ZanoniAnita Rauch

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