A novel nonsense variant in NSD1 gene in a female child with Sotos syndrome: A case report and literature review.

ABSTRACT:

Introduction

Sotos syndrome (SS) is an overgrowth disease characterized by distinctive facial features, advanced bone age, macrocephaly, and developmental delay is associated with alterations in the NSD1 gene. Here, we report a case of a 4-year-old female child with SS caused by NSD1 gene nonsense mutation.

Methods

Whole-exome sequencing (WES) was applied for probands and her parents. Sanger sequencing was used to confirm the mutation. We performed the literature review using PubMed and found 12 articles and 14 patients who presented with SS.

Results

The patient showed typical facial features of SS, hand deformities, and seizure. WES revealed de novo heterozygous variant: NSD1 (NM_022455.5), c.6095G > A, p.TRP2032*. We also reviewed the phenotype spectrum of 14 patien

SUBMITTER: Liu X 

PROVIDER: S-EPMC10726859 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature