Prevalence of Bardet-Biedl syndrome in Tunisia

被引：22

作者：

M'hamdi O. ^{[1
]}

Ouertani I. ^{[1
]}

Maazoul F. ^{[2
]}

Chaabouni-Bouhamed H. ^{[1
]}

机构：

[1] Faculté de Médecine de Tunis, University Tunis El Manar, Tunis

[2] Department of Hereditary Disorders, Charles Nicolle Hospital, Tunis

来源：

Journal of Community Genetics | 2011年 / 2卷 / 2期

关键词：

Intellectual Disability; Hypogonadism; Retinitis Pigmentosa; Strabismus; Astigmatism;

D O I：

10.1007/s12687-011-0040-6

中图分类号：

学科分类号：

摘要：

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. © 2011 Springer-Verlag.

引用

页码：97 / 99

页数：2

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