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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Screening of the eight BBS genes in Tunisian families: No evidence of triallelism
Investigative Ophthalmology and Visual Science, Volume 47, No. 8, Year 2006
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Description
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. Copyright © Association for Research in Vision and Ophthalmology.
Authors & Co-Authors
Smaoui, Nizar
United States, Bethesda
National Eye Institute Nei
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Chaabouni, Myriam
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Sergeev, Yuri V.
United States, Bethesda
National Eye Institute Nei
Kallel, Habib
Tunisia, Bizerte
Hospital of Ras Djebel
Li, Shouling
United States, Bethesda
National Eye Institute Nei
Mahfoudh, Neila
Tunisia, Sfax
Faculty of Medicine of Sfax
Maâzoul, Faouzi
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Kammoun, Hassen
Tunisia, Sfax
Faculty of Medicine of Sfax
Gandoura, Najoua
Tunisia, Tunis
University of Carthage
Bouaziz, Asma
Tunisia
University Hospital of Nabeul
Nouiri, Ezzedine
Tunisia, Tunis
Faculté de Médecine de Tunis
M’rad, Ridha
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Chaâbouni, Habiba Bouhamed
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Hejtmancik, James Fielding
United States, Bethesda
National Eye Institute Nei
Statistics
Citations: 64
Authors: 14
Affiliations: 7
Identifiers
Doi:
10.1167/iovs.05-1334
ISSN:
01460404
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Study Design
Cross Sectional Study
Study Locations
Tunisia