Startle Hyperekplexia (Wolfhound Type) Overview
Startle Hyperekplexia (Wolfhound Type)
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Category: Musculoskeletal - Associated with muscles, bones and associated structures
Gene: Solute carrier family 6 member 5 (SLC6A5) on Chromosome 21
Variant Detected: Nucleotide Deletion CanFam 3.1 chr21:42583623-42587925del (4303 bp deletion)
Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.
Mode of Inheritance: Autosomal Recessive
Research Citation(s): Gill, JL. et al. Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene. (2011) Neurobiology of Disease 43;184–189.
Associated Breed(s): Irish Wolfhound, Mixed Breed,