IOVS Journal of Neuroscience
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(Investigative Ophthalmology and Visual Science. 2006;47:3487-3495.)
© 2006 by The Association for Research in Vision and Ophthalmology, Inc.
DOI:  10.1167/iovs.05-1334
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Screening of the Eight BBS Genes in Tunisian Families: No Evidence of Triallelism

Nizar Smaoui,1,2 Myriam Chaabouni,2 Yuri V. Sergeev,1 Habib Kallel,3 Shouling Li,1 Neila Mahfoudh,4 Faouzi Maazoul,2 Hassen Kammoun,4 Najoua Gandoura,5 Asma Bouaziz,6 Ezzedine Nouiri,7 Ridha M’Rad,2 Habiba Chaabouni,2 and J. Fielding Hejtmancik1

1From the Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland; the 2Department of Congenital and Hereditary Diseases, E. P. S. Charles Nicolle, Tunis, Tunisia; the 3Hospital of Ras Djebel, Bizerte, Tunisia; the 4Medical Faculty of Sfax, Sfax, Tunisia; the 5Pediatric Department, University Hospital of Bizerte, Bizerte, Tunisia; the 6Pediatric Department, University Hospital of Nabeul, Nabeul, Tunisia; and the 7Genetic Department, Medical Faculty of Tunis, Tunis, Tunisia.

PURPOSE. To study Bardet-Biedl syndrome (BBS) in the Tunisian population and determine the presence of triallelism in the eight identified BBS genes.

METHODS. DNA samples were collected from 19 consanguineous Tunisian families with BBS. Genome-wide scans were performed with microsatellite markers in 12 families, and two-point linkage analyses were performed. Direct sequencing was used to screen patients with BBS for mutations in all eight identified BBS genes.

RESULTS. Mutations in the BBS genes were identified in nine families. In addition, a large consanguineous family (57004) showed linkage to the BBS7 locus, although no mutation was identified. Five novel mutations were present in the nine families: one in BBS2 (c.565C>T, p.ArgR189Stop), one in BBS5 (c.123delA, p.Gly42GlufsX11), one in BBS7 (g.47247455_47267458del20004insATA, p.Met284LysfsX7), and two in BBS8 (c.459+1G>A, p.Pro101LeufsX12 and c.355_356insGGTGGAAGGCCAGGCA, p.Thr124ArgfsX43).

CONCLUSIONS. All families in which mutations were identified show changes in both copies of the mutant gene, and inheritance patterns in all families are consistent with autosomal recessive inheritance excluding any evidence of triallelism in the BBS genes in Tunisia.






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