NDLI: Prevalence of Bardet–Biedl syndrome in Tunisia

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Some considerations about a report on ‘Public health in an era of genomic-based and personalized medicine’ from the Public Health Foundation, Cambridge

Journal of Community Genetics : Volume 2, Issue 1, March 2011

Journal of Community Genetics : Volume 1

Prevalence of Bardet–Biedl syndrome in Tunisia

Content Provider	Springer Nature Link
Author	M’hamdi, Oussama Ouertani, Ines Maazoul, Faouzi Chaabouni Bouhamed, Habiba
Copyright Year	2011
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.
Starting Page	97
Ending Page	99
Page Count	3
File Format	PDF
ISSN	1868310X
Journal	Journal of Community Genetics
Volume Number	2
Issue Number	2
e-ISSN	18686001
Language	English
Publisher	Springer-Verlag
Publisher Date	2011-02-20
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Gene Function Public Health/Gesundheitswesen Human Genetics Gene Therapy Epidemiology
Content Type	Text
Resource Type	Article
Subject	Public Health, Environmental and Occupational Health Epidemiology Genetics (clinical)

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