Bardet-Biedl Syndrome 14

Watchlist

(log in to enable)

Retrieved

2019-09-22

Source

Omim

Trials

—

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 )

Interested in hearing about new therapies?

A number sign (#) is used with this entry because of evidence that Bardet-Biedl syndrome-14 (BBS14) is caused by homozygous mutation in the CEP290 gene (610142) on chromosome 12q21. One such patient has been reported.

Description

BBS14 is an autosomal recessive ciliopathy described in a single patient with features of retinitis pigmentosa, obesity, mental retardation, and renal disease (Leitch et al., 2008).

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

Molecular Genetics

In an 11-year-old female with Bardet-Biedl syndrome from a consanguineous Saudi Arabian family, Leitch et al. (2008) identified homozygosity for a nonsense mutation in the CEP290 gene (610142.0013). The proband also carried a complex allele of the MKS3 gene (609884.0012) in heterozygosity. No family member studied was homozygous for either the CEP290 allele or the MKS3 allele. Studies in zebrafish showed strong genetic interaction between cep290 and mks3. Injection of either cep290 or mks3 morpholino alone resulted in at least 50% of embryos being normal or only mildly affected, whereas injection of both morpholinos together resulted in all embryos being severely affected.