Senior-Loken Syndrome 7

Watchlist

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

IQCB1, NPHP1, CEP290, NPHP4, WDR19, NPHP3, SDCCAG8, CEP164, INVS, SCLT1, TRAF3IP1, POC1B, TMEM218, RPGRIP1L, DNAJC13, INF2, UMOD, HNF1B, RPGR, ALDH3A2

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

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A number sign (#) is used with this entry because Senior-Loken syndrome 7 (SLSN7), a ciliopathy, is caused by homozygous mutation in the SDCCAG8 gene (613524) on chromosome 1q43.

Mutations in SDCCAG8 can also result in Bardet-Biedl syndrome-16 (BBS16; 615993).

For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900.

Molecular Genetics

Otto et al. (2010) used homozygosity mapping followed by exon capture and massively parallel sequencing to identify a homozygous truncating mutation in the SDCCAG8 gene (613524.0001) in 2 sibs with Senior-Loken syndrome-7, who were born of consanguineous parents from Reunion Island. Both patients had biopsy-confirmed nephronophthisis and retinal degeneration, leading to blindness in 1. They found homozygous mutations in SDCCAG8 in 5 other families with a phenotype consistent with Senior-Loken syndrome. Recessive SDCCAG8 mutations accounted for 3.3% (6 of 182) cases from a worldwide SLSN cohort.