Possibly relevant human trait(s) and/or gene(s) (MIM number): 149400

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2011

Cross-species summary: Also known as startle disease

Inheritance: Gill et al. (2019): "a rapid genotyping test that revealed heterozygosity for the deletion in the dam and sire and three other siblings, confirming recessive inheritance."

Murphy et al. (2019): "Family members were genotyped for the deletion, and findings were consistent with an autosomal recessive inheritance pattern."

Molecular basis: Gill et al. (2011): "analysis of SLC6A5 revealed a homozygous 4.2 kb microdeletion encompassing exons 2 and 3 in both affected [Irish Wolfhound] animals.'

Murphy et al. (2019): "Whole genome resequencing of an affected [Spanish greyhound] dog revealed a homozygous two base pair deletion in the ninth exon of SLC6A5, encoding the presynaptic glycine transporter. The deletion is predicted to cause a frameshift, p.S460FfsX47, leading to a premature stop codon that truncates over a third of the protein."

Prevalence: Murphy et al. (2019): "The [Spanish Greyhound] pathogenic variant was absent from 34 unrelated greyhounds, 659 domestic dogs of pure and mixed breeds, and 54 wild canids, suggesting it occurred recently and may be private to the family."

Breeds: Irish Wolfhound, Spanish greyhound.

Associated gene: