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L. Amiri Kordestani, W. Yao, F. Zulfiqar, A. Riazuddin, Q. Zhang, M. Amer, T. Hussnain, P.A. Sieving, S. Riazuddin, J.F. Hejtmancik; A Novel Mutation (Arg413Ter) in the BBS2 Gene in a Consanguineous Pakistani Family With Bardet–Biedl Syndrome . Invest. Ophthalmol. Vis. Sci. 2006;47(13):4622.
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To identify the disease locus associated with Bardet–Biedl syndrome in a large consanguineous Pakistani family.
A genome wide scan was performed using more than 382 polymorphic microsatellite markers on genomic DNA from affected and unaffected family members. Two point lod scores were calculated and haplotypes were analyzed. The coding exons of BBS1, BBS2, BBS3, BBS4, BBS5, BBS6, BBS7, and BBS8 genes were analyzed by sequencing the coding exons bidirectionally.
Family 61014 shows linkage to markers in a 68.4cM (64.12 Mb) region of chromosome 16q between D16S3075 and D16S515. A maximum lod score of 3.42 was obtained with D16S494 at theta = 0. Sequence analysis of the BBS2 gene identified a C to T substitution in exon 11: c.1658C>T resulting in a premature termination, p.R413X of the BBS2 protein. This mutation results in a 413 amino acid truncated protein instead of the 721 amino acid full–length BBS2 protein. We did not find any mutations in BBS1, BBS3, BBS4, BBS5, BBS6, BBS7, and BBS8 genes contributing to the disease phenotype as triallelic inheritance.
Linkage analysis and sequencing of the BBS2 gene suggest that the Arg413Ter mutation in exon 11 of the BBS2 gene is solely responsible for Bardet–Biedl syndrome in this Pakistani family.
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