Retinitis Pigmentosa 55

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2019-09-22
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A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-55 (RP55) is caused by homozygous mutation in the ARL6 gene (608845) on chromosome 3q11. One such family has been reported.

Mutation in the ARL6 gene can also cause a form of Bardet-Biedl syndrome (BBS3; see 209900), in which retinitis pigmentosa is one of the primary features.

Mapping

Aldahmesh et al. (2009) used homozygosity mapping to suggest causative genes in 52 Saudi Arabian patients with nonsyndromic retinitis pigmentosa (RP), and found linkage to the BBS3 locus on chromosome 3p12-q13.

Molecular Genetics

In 4 Saudi Arabian sibs with nonsyndromic retinitis pigmentosa (RP) mapping to chromosome 3p12-q13, Aldahmesh et al. (2009) identified homozygosity for a missense mutation in the ARL6 gene (608845.0006). Thorough examination of the affected sibs by Safieh et al. (2010) revealed no recognizable primary or secondary features of BBS other than retinitis pigmentosa. Analysis of more than 50 additional RP patients yielded no similar cases, suggesting that the contribution of ARL6 to nonsyndromic RP is infrequent.