De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype.

ABSTRACT:

Background

Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome caused by partial 4p deletion highly variable in size in individual patients. The core WHS phenotype is defined by the association of growth delay, typical facial characteristics, intellectual disability and seizures. The WHS critical region (WHSCR) has been narrowed down and NSD2 falls within this 200 kb region. Only four patients with NSD2 variants have been documented with phenotypic features in detail.

Case presentation

Herein, we report the case of a 12-year-old boy with developmental delay. He had dysmorphic facial features including wide-spaced eyes, prominent nasal bridge continuing to forehead, abnormal teething and micrognathia. He also had mild clinodactyly of both hands. Using whole-exome seq

SUBMITTER: Jiang Y 

PROVIDER: S-EPMC6683463 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature