Bardet-Biedl Syndrome 19

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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 of evidence that Bardet-Biedl syndrome-19 (BBS19) can be caused by homozygous mutation in the IFT27 gene (615870) on chromosome 22q12. One such family has been reported.

Description

BBS19 is an autosomal recessive ciliopathy characterized by obesity, intellectual disability, polydactyly, renal failure, retinitis pigmentosa, and hypogonadism (Aldahmesh et al., 2014).

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

Clinical Features

Aldahmesh et al. (2014) reported 2 sibs with BBS from a consanguineous Saudi family. The older of the sibs was a 15-year-old boy with morbid obesity, mild intellectual disability, polydactyly of all extremities, borderline renal failure, retinitis pigmentosa, and hypogonadism. His affected 14-year-old sister had intellectual disability, morbid obesity, polydactyly of 3 limbs, renal hypoplasia, end-stage renal failure requiring dialysis, and retinitis pigmentosa. Additionally, both had typical facies, fatty liver, hyposmia, and atopy.

Molecular Genetics

In a brother and sister with BBS from a consanguineous Saudi family, Aldahmesh et al. (2014) detected homozygosity for a missense mutation at a highly conserved residue of IFT27 (615870.0001).