These authors have equally contributed.
Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis
Article first published online: 5 APR 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 85, Issue 2, pages 172–177, February 2014
How to Cite
M'hamdi, O., Redin, C., Stoetzel, C., Ouertani, I., Chaabouni, M., Maazoul, F., M'rad, R., Mandel, J.L., Dollfus, H., Muller, J. and Chaabouni, H. (2014), Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. Clinical Genetics, 85: 172–177. doi: 10.1111/cge.12129
The authors have reported no conflicts of interest.
- Issue published online: 13 JAN 2014
- Article first published online: 5 APR 2013
- Accepted manuscript online: 21 FEB 2013 03:49PM EST
- Manuscript Revised: 18 FEB 2013
- Manuscript Accepted: 18 FEB 2013
- Manuscript Received: 16 AUG 2012
- Agence de Biomedicine France
- Association Française contre les myopathies (AFM)
- Ministry of High Education and Scientific Research and Technology
- Bardet–Biedl syndrome;
- genotype–phenotype correlation;
- next generation sequencing
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.