Senior-Loken Syndrome 4

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 of evidence that Senior-Loken syndrome-4 (SLSN4) is caused by homozygous mutation in the NPHP4 gene (607215) on chromosome 1p36.

Mutations in the NPHP4 gene can also cause nephronophthisis-4 (606966).

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

Clinical Features

Schuermann et al. (2002) reported a family (F3) in which 3 individuals were affected with late-onset retinitis pigmentosa in addition to nephronophthisis, an association described as Senior-Loken syndrome.

Mapping

In family F3 reported by Schuermann et al. (2002), haplotype analysis of 8 markers at the nephronophthisis-4 locus was compatible with homozygosity by descent in all 3 affected children. Multipoint linkage analysis for these markers yielded a maximum lod score of 2.7, for marker D1S214. This marker is positioned on a physical map, only 0.3 Mb from marker D1S2642, which flanks the NPHP4 region on the centromeric side. The authors referred to the locus on 1p as SLSN4.

Molecular Genetics

Otto et al. (2002) demonstrated 2 loss-of-function mutations of the NPHP4 gene (607215.0006-607215.0007) in patients with Senior-Loken syndrome from 2 unrelated families.