title: ADAMTS17 mutation associated with primary lens luxation is widespread among breeds.
abstract: Primary lens luxation (PLL) is a well-recognized, painful and potentially blinding inherited ocular condition in dogs. We screened PLL-affected dogs of 30 different breeds, to identify those which carried a previously described c.1473+1 G>A mutation in ADAMTS17 that is associated with PLL in Miniature Bull terriers, Lancashire Heelers, and Jack Russell terriers. This ADAMTS17 mutation was identified in PLL-affected dogs from 14 additional breeds. PLL-affected dogs from some breeds (most notably the Shar pei and the Brittany spaniel) did not carry the G1473+1A ADAMTS17 mutation, indicating they must suffer from a genetically distinct form of the condition. We also estimated the frequency of this ADAMTS17 mutation in some of the breeds. Our findings indicate the mutation segregates in a large number of different breeds of dog, many of which are terriers or breeds with terrier co-ancestry, but some of which have more diverse origins. Our results also indicate that the mutation is present at high frequency within most of the breeds in which it segregates. In the miniature bull terrier breed estimates of mutation frequency ranged from 0.27 to 0.39, corresponding to 7.3-15.2% PLL-affected dogs in this breed. We also identified an increased risk of PLL associated with heterozygosity at ADAMTS17, suggesting that carriers carry a low risk of developing PLL.
authors: Davies Veterinary Specialists, Manor Farm Business Park, Higham Gobion, Herts, UK.
authors: David
authors: D
authors: Gould
authors: Louise
authors: L
authors: Pettitt
authors: Bryan
authors: B
authors: McLaughlin
authors: Nigel
authors: N
authors: Holmes
authors: Oliver
authors: O
authors: Forman
authors: Anne
authors: A
authors: Thomas
authors: Saija
authors: S
authors: Ahonen
authors: Hannes
authors: H
authors: Lohi
authors: Caroline
authors: C
authors: O'Leary
authors: David
authors: D
authors: Sargan
authors: Cathryn
authors: C
authors: Mellersh
mesh_terms: D051722:ADAM Proteins / Q000235:genetics*; D000818:Animals; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D005787:Gene Frequency / Q000235:genetics; D005820:Genetic Testing / Q000662:veterinary; D060005:Genotyping Techniques / Q000662:veterinary; D007906:Lens Subluxation / Q000235:genetics / Q000662:veterinary*; D017354:Point Mutation / Q000235:genetics*; D013045:Species Specificity
chemical_list: D051722:ADAM Proteins