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.
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.
Authors: Leen Abu-Safieh; Shamsa Al-Anazi; Lama Al-Abdi; Mais Hashem; Hisham Alkuraya; Mushari Alamr; Mugtaba O Sirelkhatim; Zuhair Al-Hassnan; Basim Alkuraya; Jawahir Y Mohamed; Ahmad Al-Salem; May Alrashed; Eissa Faqeih; Ameen Softah; Amal Al-Hashem; Sami Wali; Zuhair Rahbeeni; Moeen Alsayed; Arif O Khan; Lihadh Al-Gazali; Peter E M Taschner; Selwa Al-Hazzaa; Fowzan S Alkuraya Journal: Eur J Hum Genet Date: 2012-02-22 Impact factor: 4.246
Authors: David N Cooper; Michael Krawczak; Constantin Polychronakos; Chris Tyler-Smith; Hildegard Kehrer-Sawatzki Journal: Hum Genet Date: 2013-07-03 Impact factor: 4.132
Authors: Magdalena Cardenas-Rodriguez; Daniel P S Osborn; Florencia Irigoín; Martín Graña; Héctor Romero; Philip L Beales; Jose L Badano Journal: Hum Genet Date: 2012-09-27 Impact factor: 4.132
Authors: Muhammad Ajmal; Muhammad Imran Khan; Kornelia Neveling; Ali Tayyab; Sulman Jaffar; Ahmed Sadeque; Humaira Ayub; Nasir Mahmood Abbasi; Moeen Riaz; Shazia Micheal; Christian Gilissen; Syeda Hafiza Benish Ali; Maleeha Azam; Rob W J Collin; Frans P M Cremers; Raheel Qamar Journal: Mol Vis Date: 2013-03-21 Impact factor: 2.367