A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature.

ABSTRACT:

Background

Coffin-Siris syndrome is a clinically elusive and rare genetic disease characterized by a wide range of clinical manifestations. This study deeply analyzed and identified the clinical phenotype and genetic variant location in a pediatric patient with Coffin-Siris syndrome, aiming to enhance the understanding of this syndrome and assist in its screening and diagnosis.

Methods

A combination of advanced diagnostic tools, including high-throughput whole-exome sequencing (WES) and first-generation sequencing technologies, was employed to ascertain the etiology of the disease in the child.

Results

The clinical phenotype was characterized by stunted growth, reduced stature, spina bifida, enuresis, and a ventricular septal defect. WES revealed a de novo variant in

SUBMITTER: Bai G 

PROVIDER: S-EPMC11539493 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature