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Prevalence of Bardet-Biedl syndrome in Tunisia.

Authors
  • M'hamdi, Oussama
  • Ouertani, Ines
  • Maazoul, Faouzi
  • Chaabouni-Bouhamed, Habiba
Type
Published Article
Journal
Journal of community genetics
Publication Date
Jun 01, 2011
Volume
2
Issue
2
Pages
97–99
Identifiers
DOI: 10.1007/s12687-011-0040-6
PMID: 22109794
Source
Medline
License
Unknown

Abstract

Bardet-Biedl syndrome (BBS, OMIM 209900) is a ciliopathy causing multivisceral abnormalities. This disease is mainly characterized by obesity, post-axial polydactyly, hypogenitalism, intellectual disabilities, pigmentary retinopathy, and renal deficiency. The prevalence of BBS has been estimated in different populations, ranging from 1 in 160,000 in European populations to 1 in 13,000 in Bedouins from Kuwait. In the present report, we present the first epidemiological study of Bardet-Biedl syndrome in Tunisia. From 1984 to 2009, 46 Tunisian families, including 67 affected members, were diagnosed as BBS. The patients' ages ranged between 6 months and 37 years, with median age of 10.4 years. High level of consanguinity was noted in our cohort (93.47%). The overall minimum prevalence in our population was estimated to be approximately 1 in 156,000 individuals. Our study reflects the actual frequency of BBS in North Africa and showed that this disease seems uncommon.

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