Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.

ABSTRACT:

Background

Bardet-Biedl syndrome (BBS) is a type of non-motile ciliopathy. To date, 26 genes have been reported to be associated with BBS. However, BBS is genetically heterogeneous, with significant clinical overlap with other ciliopathies, which complicates diagnosis. Disability and mortality rates are high in BBS patients; therefore, it is urgent to improve our understanding of BBS. Thus, our study aimed to describe the genotypic and phenotypic spectra of BBS in China and to elucidate genotype-phenotype correlations.

Methods

Twenty Chinese patients diagnosed with BBS were enrolled in this study. We compared the phenotypes of Chinese BBS patients in this study with those from other countries to analyze the phenotypic differences across patients worldwide. In addition, genot

SUBMITTER: Gao S 

PROVIDER: S-EPMC11000329 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature