Peer-reviewed veterinary case report
Genetic deletions linked to falling and dry eye curly coat
By Forman, Oliver P et al.·Published in PLoS genetics·2012·Kennel Club Genetics Centre, United Kingdom·View original on PubMed →
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Original publication title: Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed.
- Species:
- dog
Plain-English summary
A group of Cavalier King Charles Spaniels was studied for two inherited disorders: episodic falling (EF), which causes dogs to have muscle stiffness and abnormal postures after exercise, and dry eye curly coat syndrome (CKCSID), which leads to rough coats and eye problems from a young age. Researchers found specific genetic mutations linked to these conditions, including a significant deletion in the BCAN gene for EF and a small deletion in the FAM83H gene for CKCSID. Understanding these genetic factors can help in diagnosing and managing these disorders in affected dogs.
People also search for: Cavalier King Charles Spaniel episodic falling · dry eye curly coat syndrome in dogs · genetic disorders in Cavalier King Charles Spaniels
Abstract
The domestic dog (Canis familiaris) segregates more naturally-occurring diseases and phenotypic variation than any other species and has become established as an unparalled model with which to study the genetics of inherited traits. We used a genome-wide association study (GWAS) and targeted resequencing of DNA from just five dogs to simultaneously map and identify mutations for two distinct inherited disorders that both affect a single breed, the Cavalier King Charles Spaniel. We investigated episodic falling (EF), a paroxysmal exertion-induced dyskinesia, alongside the phenotypically distinct condition congenital keratoconjunctivitis sicca and ichthyosiform dermatosis (CKCSID), commonly known as dry eye curly coat syndrome. EF is characterised by episodes of exercise-induced muscular hypertonicity and abnormal posturing, usually occurring after exercise or periods of excitement. CKCSID is a congenital disorder that manifests as a rough coat present at birth, with keratoconjunctivitis sicca apparent on eyelid opening at 10-14 days, followed by hyperkeratinisation of footpads and distortion of nails that develops over the next few months. We undertook a GWAS with 31 EF cases, 23 CKCSID cases, and a common set of 38 controls and identified statistically associated signals for EF and CKCSID on chromosome 7 (P(raw) 1.9×10(-14); P(genome) = 1.0×10(-5)) and chromosome 13 (P(raw) 1.2×10(-17); P(genome) = 1.0×10(-5)), respectively. We resequenced both the EF and CKCSID disease-associated regions in just five dogs and identified a 15,724 bp deletion spanning three exons of BCAN associated with EF and a single base-pair exonic deletion in FAM83H associated with CKCSID. Neither BCAN or FAM83H have been associated with equivalent disease phenotypes in any other species, thus demonstrating the ability to use the domestic dog to study the genetic basis of more than one disease simultaneously in a single breed and to identify multiple novel candidate genes in parallel.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/22253609/