Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 616457 (trait) , 114010 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0014647: developmental and epileptic encephalopathy, 50

Single-gene trait/disorder: yes

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2025

Molecular basis: Kaczmarska et al. (2025) conducted whole genome sequencing of an affected Bengal kitten and report a likely causal CAD variant: "The variant, XP_011279586.1:p.(Ser2015Asn) [omia.variant1787], was predicted to affect the oligomerization of the C-terminal aspartate transcarbamylase (ATCase) of CAD. Genotyping of 110 unaffected Bengal cats revealed four additional carriers of the mutant allele ... . In a CAD-knockout human cell line dependent on uridine, the recombinant expression of human wildtype CAD, but not of the Asn2015 mutant, restored cell growth without uridine, demonstrating that the p.Ser2015Asn variant disrupts CAD function and is pathogenic."

Clinical features: Kaczmarska et al. (2025) report  "a 4-month-old Bengal kitten with intractable seizures and abnormal behavior" which commenced at 13 weeks of age. As the kitten showed only partial response to treatment euthanasia was elected due to the impaired quality of life. 

Breed: Bengal (Cat) (VBO_0100040).
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: