Bardet-Biedl syndrome
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Web Resources for Bardet-Biedl syndrome
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Medpedia on Bardet-Biedl syndrome (Less technical, good quality control)
Wikipedia on Bardet-Biedl syndrome (Less technical, ? quality control)
A group of conditions with recessive inheritance sometimes with a modifier of penetrance (triallelic inheritance) characterised by:
- Retinal dystrophy, often retinitis pigmentosa
- Renal abnormalities, often cystic kidney dysplasia.
- Polydactyly, syndactyly and/or brachydactyly
- Obesity
- Mentally retardation sometimes
- Hypogonadotropism or other sex organ abnormalities in some
- Diabetes mellitus sometimes
The described subtypes are:
- BBS1 - on 11q13
- BBS2 - on 16q21 - postaxial polydactyly
- BBS3 - mutation of ADP-ribosylation factor (ARF)-like-6 gene (ARL6) on 3p12-q13 - postaxial polydactyly
- BBS4 - on 15q22.3
- BBS5 - on 2q31 - brachydactyly and/or syndactyly
- BBS6 - complete absence of function of the McKusick-Kaufman syndrome (MKKS) gene on 20p12
- BBS7 - on 4q27
- BBS8 - mutation in a tetratricopeptide repeat protein, TTC8 on 14q32.11
- BBS9 - mutation in parathyroid hormone-responsive gene B1 (PTHB1) on 7p14
- BBS10 - mutation of C12ORF58 gene on 12q21.2
- BBS11 - mutation of tripartite motif-containing protein-32 gene (TRIM32) on 9q33.1
