Otto et al. (2010) used homozygosity mapping followed by exon capture and massively parallel sequencing to identify a homozygous truncating mutation in the SDCCAG8 gene (613524.0001) in 2 sibs with Senior-Loken syndrome 7, who were born of consanguineous ... Otto et al. (2010) used homozygosity mapping followed by exon capture and massively parallel sequencing to identify a homozygous truncating mutation in the SDCCAG8 gene (613524.0001) in 2 sibs with Senior-Loken syndrome 7, who were born of consanguineous parents from Reunion Island. Both patients had biopsy-confirmed nephronophthisis and retinal degeneration, leading to blindness in 1. Analysis of additional families found 11 different truncating mutations (see, e.g., 613524.0002-613524.0005) in 9 families with SLSN. Some of the families had additional features, such as obesity and mild mental retardation, that were suggestive of the ciliopathy Bardet-Biedl syndrome (209900); however, none of the patients had polydactyly. Recessive SDCCAG8 mutations accounted for 3.3% (6 of 182) cases from a worldwide SLSN cohort.