Categories: Cardiovascular system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 186854 (gene) , 145350 (trait)

Links to relevant human diseases in MONDO:

• MONDO:0007777: hypotaurinemic retinal degeneration and cardiomyopathy

Single-gene trait/disorder: yes

Mode of inheritance: Autosomal incomplete dominant

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2026

Molecular basis: Rivas et al. (2026): A whole-genome association study (WGAS), under the assumptions of an incomplete dominance mode of inheritance (MOI), was performed ... . A ‘MODERATE’ c.1282C > T; p.Arg428Trp variant [omia.variant:1927] harbored in Solute Carrier Family 6 Member 6/Taurine Transporter (SLC6A6/TauT) was identified [as likely causal variant]. ... Functional analyses involving wildtype and mutant SLC6A6 overexpression in HEK293-derived cells revealed marked reduction in cellular taurine uptake and decreased plasma membrane expression in those harboring the c.1282C > T variant. "

Clinical features: Rivas et al. (2026): "A three-year-old domestic shorthair cat [homozygous for omia.variant:1927] was evaluated for vomiting, anorexia, and lethargy. Severe dilated cardiomyopathy and taurine deficiency were identified, despite eating a commercial, nutritionally balanced, diet with adequate taurine concentrations." The queen and a littermate (which were both heterozygous for omia.variant:1927) had mild taurine and echocardiographic abnormalities.

Breed: Domestic Shorthair (Cat) (VBO_0100119).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

Associated gene: