Bardet-Biedl Syndrome 15

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

MKS1, BBS10, SDCCAG8, LZTFL1, BBIP1, CEP290, ARL6, IFT27, BBS2, MKKS, BBS4, BBS1, TTC8, ALMS1, IFT172, C8orf37, NPHP1, TMEM67, TBC1D32, BBS7, TRIM32, BBS9, BBS5, BBS12, TRAPPC3, ASTN2, PIGX, CEP19, ZDHHC24, CCDC28B, LEP, GLIS2, RTEL1, PLLP, PYY3, SULT1A4, PEG13, AZIN1, STOML3, RIN2, MAGEL2, CBLL2, MARVELD2, MYO3B, INPP5E, USP35, MUL1, WDPCP, IFT74, CEP131, SCAPER, INVS, NPY2R, NPY, NMB, NDN, MYO9A, MYO7A, RAB8A, KIFC3, KIF2A, INSR, IL18, GPT, GFAP, ERG, CCT, TNFRSF11B, PRKN, PCM1, ADIPOQ, CEP164, STUB1, FEM1B, RAPGEF5, IQCB1, FEZ1, TRPV1, PDE6B, VEGFA, SULT1A3, RHO, RFX1, RCVRN, PECAM1, SLX1A-SULT1A3

Drugs

Adeno-associated virus serotype 8 containing the human RdCVF sequence and the human RdCVFL sequence, Combination of three adeno-associated viral vectors of serotype 8 containing the 5'-, the body- and the 3'- coding sequences of human CEP290 fused to inteins, Leuprolide acetate ( LUPRON INJECTION )

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A number sign (#) is used with this entry because Bardet-Biedl syndrome-15 (BBS15) is caused by homozygous mutation in the WDPCP gene (613580) on chromosome 2p15. One such patient has been reported.

Description

BBS15 is a form of BBS caused by mutation in the WDPCP gene, a planar cell polarity gene (Kim et al., 2010).

For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).

Molecular Genetics

In a patient with a clinical diagnosis of BBS, Kim et al. (2010) identified a homozygous mutation in the WDPCP gene (613580.0001). Both parents and an unaffected sib were heterozygous for the mutation. Kim et al. (2010) also identified 2 heterozygous missense alleles of WDPCP in 2 individuals with BBS that were absent from 384 ethnically matched controls, HapMap, and 1000 Genomes. No clinical details were given for any of the patients.