Dataset Information

A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

ABSTRACT:

Purpose

To describe the clinical features of and identify a novel mutation in Bardet-Biedl syndrome 7 gene (BBS7) in a Chinese family.

Methods

Nineteen individuals at risk for inheriting Bardet-Biedl syndrome (BBS) in a Chinese family participated in the study. Physical examination was performed and blood was drawn for DNA extraction. Linkage analysis was conducted for all known BBS loci, and mutation screening of BBS7 gene and BBS12 gene was performed.

Results

A Chinese family with inherited BBS was identified. After performing linkage analysis on all 13 known loci, we found the disease phenotype of a Chinese family with BBS linked to a locus where BBS7 and BBS12 genes locate.