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Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.
- Source :
-
Journal of medical genetics [J Med Genet] 2010 Apr; Vol. 47 (4), pp. 236-41. Date of Electronic Publication: 2009 Oct 26. - Publication Year :
- 2010
-
Abstract
- Bardet-Biedl syndrome (BBS) is a ciliopathy with pleiotropic effect that manifests primarily as renal insufficiency, polydactyly, retinal dystrophy and obesity. The current phenotype-genotype correlation is insufficient to predict the likely causative mutation that makes sequencing of all 14 BBS genes an often necessary but highly complicated way to identify the underlying genetic defect in affected patients. In this study, homozygosity mapping is shown as a robust approach that is highly suited for genetically heterogeneous autosomal recessive disorders in populations in which consanguinity is prevalent. This approach allowed us to quickly identify seven novel mutations in seven families with BBS. Some of these mutations would have been missed by unguided routine sequencing, which suggests that missed mutations in known BBS genes could be more common than previously thought. This study, the largest to date on Saudi BBS families, also revealed interesting phenotypic aspects of BBS, including the first report of non-syndromic retinitis pigmentosa as a novel BBS phenotype.
- Subjects :
- Adolescent
Adult
Animals
Bardet-Biedl Syndrome diagnosis
Base Sequence
Child
Child, Preschool
Chromosome Mapping
Female
Homozygote
Humans
Male
Microtubule-Associated Proteins
Molecular Sequence Data
Oligonucleotide Array Sequence Analysis
Pedigree
Proteins genetics
Sequence Alignment
Bardet-Biedl Syndrome genetics
Consanguinity
DNA Mutational Analysis methods
Subjects
Details
- Language :
- English
- ISSN :
- 1468-6244
- Volume :
- 47
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 19858128
- Full Text :
- https://doi.org/10.1136/jmg.2009.070755