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


CONCLUSIONS
This study describes a novel mutation in BBS7 causing BBS in a Chinese family. This is the first report that a mutation in a BBS gene causes BBS in a Chinese population. These results expand the spectrum of human disease associated with mutations of BBS7 since the initial three mutations in BBS7 were first identified in 2003.
Yang
Zhenglin
Z
The Key Sericultural Laboratory of Agricultural Ministry, College of Biotechnology, Southwest University, Beibei, Chongqing, China.
Yang
Yang
Y
Zhao
Peiquan
P
Chen
Kechun
K
Chen
Bin
B
Lin
Ying
Y
Guo
Fuqiang
F
Chen
Yigong
Y
Liu
Xiaoqi
X
Lu
Fang
F
Shi
Yi
Y
Zhang
Dingding
D
Liao
Shihuang
S
Xia
Qingyou
Q
D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D044466:Asian People / Q000235:genetics*; D020788:Bardet-Biedl Syndrome / Q000235:genetics*; D001483:Base Sequence; D002681:China; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D012160:Retina / Q000473:pathology
D048868:Adaptor Proteins, Signal Transducing; C473308:Bbs7 protein, human; D003598:Cytoskeletal Proteins; D011506:Proteins