Molecular characterization of BBS1,  BBS2 and BBS6 in an ethnically diverse Canadian population with Bardet-Biedl Syndrome.
Published: 2005
Language: eng
Number of pages: 72
Description: Bardet-Biedl Syndrome (BBS) is a primarily autosomal recessive disorder, with few cases of oligogenic inheritance described. Eight genes have been identified for BBS. BBS1, BBS2 and BBS6 are the 3 major BBS genes respectively. We performed haplotype analysis on 4 families for all 8 BBS loci, and mutational screening of the coding regions of the 3 major BBS genes for all our probands (n=33). We identified at least 1 mutation in 51% of our patients (17/33), and 63% of the mutations we identified were novel (17/27). Though we did not observe any cases of oligogenic inheritance thus far, we identified a higher number of patients with only a single mutant allele than expected. The most common BBS mutation---BBS1 M390R---was observed in only patients of European ancestry. We have found little evidence of any genotype-phenotype correlation in our cohort.
Notes: Source: Masters Abstracts International, Volume: 44-02, page: 0754.

Thesis (M.Sc.)--University of Toronto, 2005.

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