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.
This is a preview of subscription content, log in via an institution to check access.
References
Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA (1999) New criteria for improved diagnosis of Bardet–Biedl syndrome: results of a population survey. J Med Genet 36:437–446
Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA (1997) Bardet–Biedl syndrome: a molecular and phenotypic study of 18 families. J Med Genet 34:92–98
Farag TI, Teebi AS (1989) High incidence of Bardet Biedl syndrome among the Bedouin. Clin Genet 36:463–464
Farag TI, Teebi AS (1988) Bardet–Biedl and Laurence–Moon syndromes in a mixed Arab population. Clin Genet 33:78–82
Klein D, Amman F (1969) The syndrome of Laurence–Moon–Bardet–Biedl and allied disease in Switzerland. Clinical, genetic and epidemiological studies. J Neurol Sci 9:479–513
Moore SJ, Green JS, Fan Y et al (2005) Clinical and genetic epidemiology of Bardet–Biedl syndrome in Newfoundland: a 22-year prospective, population-based cohort study. Am J Med Genet A 132:352–360
Pereiro I, Hoskins BE, Marshall JD et al. (2011) Arrayed primer extension technology simplifies mutation detection in Bardet–Biedl and Alström syndrome. Eur J Hum Genet. doi:10.1038/ejhg.2010.207
Rooryck C, Lacombe D (2008) Bardet–Biedl syndrome. Ann Endocrinol Paris 67:463–471
Riou S, El Younsi C, Chaabouni H (1989) Consanguinity in the population of northern Tunisia. Tunis Méd 67:167–172
Zaghloul NA, Katsanis N (2009) Mechanistic insights into Bardet–Biedl syndrome, a model ciliopathy. J Clin Invest 119:428–437
Acknowledgment
We thank the patients with Bardet–Biedl syndrome and their family for their participation in this study. We also thank all the physicians who referred the patients to the Department of Hereditary and Congenital Disorders at Charles Nicolle Hospital.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
M’hamdi, O., Ouertani, I., Maazoul, F. et al. Prevalence of Bardet–Biedl syndrome in Tunisia. J Community Genet 2, 97–99 (2011). https://doi.org/10.1007/s12687-011-0040-6
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12687-011-0040-6