Senior-Loken Syndrome 3

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

Mapping

Omran et al. (2002) studied a kindred of German ancestry with extended consanguinity and typical findings of SLSN. They identified a locus for SLSN in the region of the nephronophthisis-3 locus on chromosome 3q21-q22 (NPHP3; 604387). Haplotype studies showed a result compatible with homozygosity by descent in all affected individuals, covering the whole NPHP3 region. Linkage analysis yielded a parametric maximum multipoint lod score of 3.14. Recombinants observed for D3S1587 and D3S621 defined the critical disease interval, which spans 14 cM. Olbrich et al. (2003) did not identify mutations in the NPHP3 gene (608002) in affected members of the German family reported by Omran et al. (2002).