Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature.

ABSTRACT:

Background

Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant disease that is mainly caused by PHOX2B mutations. The purpose of this study is to analyze and summarize the clinical and genetic characteristics of CCHS patients in the Chinese population from our study and previous literature.

Methods

The potential pathogenic gene mutations of CCHS were identified and verified by next generation sequencing combined with Sanger sequencing, fluorescent probe PCR and capillary electrophoresis. The clinical characteristics and gene mutations of CCHS cases in Chinese population were summarized from our study and previous literature to explore the genotype-phenotype correlations.

Results

We identified 48 CCHS cases including three new cases from our

SUBMITTER: Wang Y 

PROVIDER: S-EPMC10724499 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature