Prevalence and Clinical Relevance of Exon 2 Deletion of COMMD1 in Bedlington Terriers in Korea.

Abstract

BackgroundDeletion of exon 2 of copper metabolism domain containing 1 (COMMD1) results in copper toxicosis in Bedlington terriers (CT‐BT).ObjectivesThis study was conducted to identify the prevalence and clinical relevance of the COMMD1 mutation in Bedlington terriers in Korea.AnimalsA total of 105 purebred Bedlington terriers (50 males, 55 females) from the kennels and pet dog clubs in Korea were examined during the period 2008–2013.MethodsA multiplex PCR was carried out to detect exon 2 deletion of COMMD1. Clinical analysis was performed on each genetic group, and clinical status of the dogs was followed up to estimate survival probability.ResultsOf the 105 samples, 52 (49%) were wild‐type homozygote, 47 (45%) were heterozygote, and 6 (6%) were mutant‐type homozygote. Plasma alanine aminotransferase (ALT) activity was increased in the mutant‐type homozygous group >2 years of age (P < .0001). The survival probability of 6 mutant‐type homozygotes surviving 2.5 years was 0.67, and 4 years was 0.5.Conclusions and Clinical ImportanceResults show the prevalence and clinical relevance of exon 2 deletion of COMMD1 and could help establish a structured selective breeding program to prevent CT‐BT in Korea.