Gene Mutation Screening of a Family with Bardet-Biedl Syndrome

ObjectiveTo detect the mutation in a Bardet-Biedl syndrome family, using the method of candidate genes screening.Materials and Methods1. Clinical data of this family was collected. All the family members were studied with medical history, ophthalmologic examinations, and whole body physical examinations. Meanwhile, the patient was studied with ERG, VEP, FFA and endocrine tests.2. Venous blood was collected from research subjects and genomic DNA was extracted.3. Candidate genes were determined by reviewing literatures and online databases.4. To screen the genes BBS1、BBS2、BBS4、MKKS/BBS6、BBS7、 TTC8/BBS8.B1/BBS9、BBS10.BBS12and MKS1/BBS13, primers were designed for each exon and direct sequencing were performed after PCR. Then the results were compared and evaluated with web databases.ResultsPatient in this family can be diagnosed as Bardet-Biedl syndrome, with an inheritance pattern of autosomal recessive.The screening of genes BBS1、BBS2、MKKS/BBS6、BBS7、TTC8/BBS8、 B1/BBS9、BBS10、BBS12and MKS1/BBS13was negative.We found a mutation in BBS4gene named I354T, which is not pathologic by bioinformatic evaluation. It does not cosegregate with patient in the family, and no other homozygote nor compound heterozygote is detected.ConclusionThe mutation of this family probably is a rare mutation or a novel disease-causing mutatin.