A glycine transporter SLC6A5 frameshift mutation causes startle disease in Spanish greyhounds

Sarah C. Murphy, Alfredo Recio, Cristian de la Fuente, Ling T. Guo, G. Diane Shelton, Leigh Anne Clark

Research output: Contribution to journalArticleResearch

2 Citations (Scopus)


© 2019, Springer-Verlag GmbH Germany, part of Springer Nature. Startle disease, or hyperekplexia, is a glycinergic disorder characterized by hypertonia and apnea that is triggered by noise and/or touch. Mutations in five genes have been associated with startle disease in humans, dogs, cattle, and mice. We identified a novel recessive startle disease in a family of Spanish greyhounds. Whole genome resequencing of an affected 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. Family members were genotyped for the deletion, and findings were consistent with an autosomal recessive inheritance pattern. The 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. The findings of this study can be used to inform future breeding decisions and prevent dissemination of the deleterious allele in greyhounds.
Original languageEnglish
Pages (from-to)509-513
JournalHuman Genetics
Publication statusPublished - 1 May 2019

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