Review
doi: 10.1159/000357054. Epub 2013 Dec 20.Update on the genetics of bardet-biedl syndrome
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- PMID:24715851
- PMCID: PMC3977223
- DOI: 10.1159/000357054
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Review
Update on the genetics of bardet-biedl syndrome
O M'hamdi et al. Mol Syndromol.2014 Feb.
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Abstract
Bardet-Biedl syndrome (BBS) is an autosomal recessive disease characterized by retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, renal involvement, and male hypogenitalism. BBS is genetically heterogeneous, and to date 18 genes (BBS1-18) have been described. Mutations in known BBS genes account for approximately 70-80% of cases, and triallelic inheritance has been suggested in about 5%. Many minor features can be helpful in making the clinical diagnosis. Recently, the use of next-generation sequencing technologies has accelerated the identification of novel genes and causative disease mutations in known genes. This report presents a concise overview of the current knowledge on clinical data in BBS and the progress in molecular genetics research. A future objective will be the development of BBS diagnosis kits in order to offer genetic counseling for families at risk.
Keywords: Bardet-Biedl syndrome; Molecular diagnosis; Next-generation sequencing.
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Suggested algorithm for the molecular analysis of Bardet-Biedl syndrome patients in clinical genetics practice.
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