Variant analysis of the chromodomain helicase DNA-binding protein 7 in pediatric disorders of sex development.

ABSTRACT:

Importance

This study investigated the role of the chromodomain helicase DNA-binding protein 7 (CHD7) in disorders of sex development (DSD).

Objective

We aimed to present the potential pathogenicity of CHD7 variants in pediatric patients with DSD.

Methods

Choosing cases with CHD7 variants from DSD patients in Beijing Children's Hospital to assess for the study. Prediction software tools were used to predict variant pathogenicity in these subjects.

Results

Among the 113 DSD patients, 22 cases had CHD7 variants. Twenty-four different CHD7 variants were identified in the 22 DSD patients. Prediction software combined with ClinVar database information and their clinical manifestations revealed that, of the 18 patients with 46, XY D

SUBMITTER: Zhang B 

PROVIDER: S-EPMC7331373 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature