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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: Defining a strategy for molecular diagnosis
Clinical Genetics, Volume 85, No. 2, Year 2014
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Description
Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare genetic disorder characterized by obesity, retinitis pigmentosa, post axial polydactyly, cognitive impairment, renal anomalies and hypogonadism. The aim of this study is to provide a comprehensive clinical and molecular analysis of a cohort of 11 Tunisian BBS consanguineous families in order to give insight into clinical and genetic spectrum and the genotype-phenotype correlations. Molecular analysis using combined sequence capture and high-throughput sequencing of 30 ciliopathies genes revealed 11 mutations in 11 studied families. Five mutations were novel and six were previously described. Novel mutations included c.1110G>A and c.39delA (p.G13fs*41) in BBS1, c.115+5G>A in BBS2, c.1272+1G>A in BBS6, c.1181_1182insGCATTTATACC in BBS10 (p.S396Lfs*6). Described mutations included c.436C>T (p.R146*) and c.1473+4A>G in BBS1, c.565C> (p.R189*) in BBS2, deletion of exons 4-6 in BBS4, c.149T>G (p.L50R) in BBS5, and c.459+1G>A in BBS8; most frequent mutations were described in BBS1 (4/11, 37%) and BBS2 (2/11, 18%) genes. No phenotype-genotype correlation was evidenced. This data expands the mutations profile of BBS genes in Tunisia and suggests a divergence of the genetic spectrum comparing Tunisian and other populations. © 2014 John Wiley & Sons A/S.
Authors & Co-Authors
M'hamdi, O.
Tunisia, Tunis
Faculté de Médecine de Tunis
Redin, Claire E.
France, Strasbourg
Université de Strasbourg
Stoetzel, Corinne
France, Strasbourg
Université de Strasbourg
Ouertani, I.
Tunisia, Tunis
Faculté de Médecine de Tunis
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Chaabouni, Myriam
Tunisia, Tunis
Faculté de Médecine de Tunis
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Maâzoul, Faouzi
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
M’rad, Ridha
Tunisia, Tunis
Faculté de Médecine de Tunis
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Mandel, Jean Louis
France, Strasbourg
Université de Strasbourg
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
France, Illkirch-graffenstaden
Collège de
Dollfus, Hélène J.
France, Strasbourg
Université de Strasbourg
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
Muller, Jean Denis
France, Strasbourg
Université de Strasbourg
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
Chaâbouni, Habiba Bouhamed
Tunisia, Tunis
Faculté de Médecine de Tunis
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Statistics
Citations: 31
Authors: 11
Affiliations: 5
Identifiers
Doi:
10.1111/cge.12129
ISSN:
00099163
e-ISSN:
13990004
Research Areas
Genetics And Genomics
Noncommunicable Diseases
Study Design
Cohort Study
Study Locations
Tunisia