Senior-Loken Syndrome 6

Watchlist

(log in to enable)

Retrieved

2019-09-22

Source

Omim

Trials

—

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

Interested in hearing about new therapies?

A number sign (#) is used with this entry because of evidence that Senior-Loken syndrome-6 (SLSN6) is caused by homozygous mutation in the NPHP6 gene (CEP290; 610142) on chromosome 12q21.

Mutations in the CEP290 gene can also cause Joubert syndrome-5 (610188).

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

Clinical Features

Sayer et al. (2006) described a Turkish family in which 2 sibs with Senior-Loken syndrome reached end-stage renal disease at 11 and 13 years of age, respectively. Both had tapetoretinal degeneration resulting in reduced vision before 3 years of age.

Mapping

Identification of causative mutations in the CEP290 gene in the Turkish family with Senior-Loken syndrome described by Sayer et al. (2006) localized the SLSN6 phenotype to chromosome 12q21.32.

Molecular Genetics

In 2 affected sibs in a Turkish family segregating Senior-Loken syndrome, Sayer et al. (2006) detected a homozygous 5-bp deletion in the CEP290 gene (610142.0004). The mutation altered an obligatory splice site.