Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism.

ABSTRACT:

Objectives

CHARGE syndrome is a congenital hereditary condition involving multiple systems. Patients are easily misdiagnosed with idiopathic hypogonadotropic hypogonadism (IHH) due to the overlap of clinical manifestations. An accurate clinical diagnosis remains challenging when the predominant clinical manifestation resembles hypogonadotropic hypogonadism.

Methods

This original research is conducted based on the genetic finding and analysis of clinical cases. Whole-exome sequencing (WES) and in-silico analyse were performed on two sisters to investigate the pathogenesis in this family. Homology modelling was conducted to evaluate structural changes in the variants.

Results

WES and Sanger sequencing revealed two siblings carrying a nonsense mutation (NM_017780.4: c.11

SUBMITTER: Wang T 

PROVIDER: S-EPMC10750161 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature