ADAMTS17 mutation associated with primary lens luxation is widespread among breeds

Gould, David, Pettitt, Louise, McLaughlin, Bryan, Holmes, Nigel, Forman, Oliver, Thomas, Anne, Ahonen, Saija, Lohi, Hannes, O'Leary, Caroline, Sargan, David and Mellersh, Cathryn (2011) ADAMTS17 mutation associated with primary lens luxation is widespread among breeds. Veterinary Ophthalmology, 14 6: 378-384. doi:10.1111/j.1463-5224.2011.00892.x

Author Gould, David
Pettitt, Louise
McLaughlin, Bryan
Holmes, Nigel
Forman, Oliver
Thomas, Anne
Ahonen, Saija
Lohi, Hannes
O'Leary, Caroline
Sargan, David
Mellersh, Cathryn
Title ADAMTS17 mutation associated with primary lens luxation is widespread among breeds
Journal name Veterinary Ophthalmology   Check publisher's open access policy
ISSN 1463-5216
Publication date 2011-11
Sub-type Article (original research)
DOI 10.1111/j.1463-5224.2011.00892.x
Volume 14
Issue 6
Start page 378
End page 384
Total pages 7
Place of publication Oxford, United Kingdom
Publisher Wiley-Blackwell Publishing
Collection year 2012
Language eng
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.
Keyword ADAMTS17
Primary lens luxation
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2012 Collection
School of Veterinary Science Publications
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Citation counts: TR Web of Science Citation Count  Cited 17 times in Thomson Reuters Web of Science Article | Citations
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