In other species: dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 266200

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1997

Cross-species summary: Also known as PK deficiency

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Giger et al. (1997) identified a causative mutation as a splicing defect in the R/L-PK gene that gives rise to 13-bp deletion (Barrs et al., 2009). The gene symbol is now PKLR. Grahn et al. (2012) reported that the splicing defect and hence deletion is a consequence of a "a guanine to adenine transition in intron 5, 304 bp 3' of the exon 5 splice-donor site and 53 bp upstream from the exon 6 splice-acceptor site ["c.693+304G>A"]. The mechanism by which this mutation results in the erroneous splicing of exons 5 and 6 has yet to be determined."

Prevalence: Grahn et al. (2012) genotyped "14,179 cats representing 40 breeds or populations" for the causal (intronic) transition. The mutation was present in 13 breeds and two other populations (random-bred cats and unspecified cats). Within these 15 breeds/populations that have the mutation, its frequency ranges "from 0.078% in the Exotic Shorthair to 12.97% in the Bengal", with an average frequency of 9.35%.

Breeds: Abyssinian, Brazilian Somali.

Associated gene: