A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands

Bardet-Biedl syndrome is a multiorgan disease presenting with retinitis pigmentosa leading to blindness. The aim of the study was to investigate the genetic background of Bardet-Biedl syndrome in the Faroe Island. It was hypothesised that a common genetic background for the syndrome would be found.

Bibliographic Details
Published in:British Journal of Ophthalmology
Main Authors: Hjortshøj, T Duelund, Grønskov, K, Brøndum-Nielsen, K, Rosenberg, T
Format: Article in Journal/Newspaper
Language:English
Published: 2009
Subjects:
Adult
Age of Onset
Aged
Bardet-Biedl Syndrome
Chromatography
High Pressure Liquid
DNA Mutational Analysis
Denmark
Female
Founder Effect
Fundus Oculi
Genetic Predisposition to Disease
Heterozygote
Homozygote
Humans
Male
Middle Aged
Prevalence
Protein Isoforms
Proteins
Retina
Reverse Transcriptase Polymerase Chain Reaction
Faroe Islands
Online Access:https://curis.ku.dk/portal/da/publications/a-novel-founder-bbs1-mutation-explains-a-unique-high-prevalence-of-bardetbiedl-syndrome-in-the-faroe-islands(edb131ce-abd4-4b0d-9e11-558efbae3d0f).html
https://doi.org/10.1136/bjo.2007.131110
Description
Summary:Bardet-Biedl syndrome is a multiorgan disease presenting with retinitis pigmentosa leading to blindness. The aim of the study was to investigate the genetic background of Bardet-Biedl syndrome in the Faroe Island. It was hypothesised that a common genetic background for the syndrome would be found.

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