Retinitis Pigmentosa 26
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-26 (RP26) is caused by homozygous or compound heterozygous mutation in the CERKL gene (608381), which encodes a ceramide kinase, on chromosome 2q31.
For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
MappingBayes et al. (1998) performed linkage analysis in a large nuclear Spanish family with 5 sibs affected by autosomal recessive retinitis pigmentosa (arRP). After excluding several genomic regions containing loci for retinal dystrophies, a genomewide search for linkage was undertaken. Positive lod scores were obtained with markers on chromosome 2q31-q33, defining an interval of about 7 cM for this novel ARRP locus, designated RP26, between D2S148 and D2S161. By homozygosity mapping, Tuson et al. (2004) refined the RP26 locus in this family to a 2.5-Mb region on chromosome 2q31.2-q32.3.
Molecular GeneticsTuson et al. (2004) identified a novel gene, CERKL, in the RP26 critical linkage region and found a homozygous mutation in exon 5 (608381.0001) of this gene in all of the patients from the RP26 family reported by Bayes et al. (1998). They identified the same mutation in another unrelated Spanish pedigree with ARRP.
Nishiguchi et al. (2013) performed whole-genome sequencing in 16 unrelated RP patients from diverse ethnic backgrounds and identified 2 patients of mixed European ancestry who were both compound heterozygous for nonsense and frameshift mutations in the CERKL gene (608381.0001-608381.0004).