Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 600528 (gene)

Single-gene trait/disorder: unknown

Disease-related: yes

Mapping: Ricketts et al. (2025) used a genome-wide association study to map bilateral posterior polar subcapsular cataracts in Siberian Huskies and Samoyeds to canine chromosome 18. The authors "subsequently used targeted resequencing of the associated region (6.5 Mb) in ten Siberian Huskies and whole genome sequencing of a Husky, Malamute, Samoyed and Norwegian Buhund case to conduct fine-mapping and screen for candidate causal variants. These analyses identified a region of linkage disequilibrium in the four breeds containing common variants in the carnitine palmitoyltransferase 1A (CPT1A) gene that are strongly associated with bilateral posterior polar subcapsular cataracts in the Siberian Husky, Samoyed, Icelandic Sheepdog and Norwegian Buhund ... . ... However, these variants do not predict cataract development and are unsuitable for preventive DNA test development."