title: Prevalence and Clinical Relevance of Exon 2 Deletion of COMMD1 in Bedlington Terriers in Korea.
abstract: BACKGROUND
  Deletion of exon 2 of copper metabolism domain containing 1 (COMMD1) results in copper toxicosis in Bedlington terriers (CT-BT).
  
  
  OBJECTIVE
  This study was conducted to identify the prevalence and clinical relevance of the COMMD1 mutation in Bedlington terriers in Korea.
  
  
  METHODS
  A 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.
  
  
  METHODS
  A 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.
  
  
  RESULTS
  Of 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
  Results 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.
authors.affiliation: Department of Internal Medicine, College of Veterinary Medicine, Jeju National University, Jeju, Korea.
authors.forename: Y G
authors.initials: YG
authors.lastname: Kim
authors.affiliation: Department of Internal Medicine, College of Veterinary Medicine, Jeju National University, Jeju, Korea.
authors.forename: S Y
authors.initials: SY
authors.lastname: Kim
authors.affiliation: Department of Internal Medicine, College of Veterinary Medicine, Jeju National University, Jeju, Korea.|Veterinary Medical Research Institute, Jeju National University, Jeju, Korea.
authors.forename: J H
authors.initials: JH
authors.lastname: Kim
authors.affiliation: Department of Internal Medicine, College of Veterinary Medicine, Jeju National University, Jeju, Korea.|Veterinary Medical Research Institute, Jeju National University, Jeju, Korea.
authors.forename: K K
authors.initials: KK
authors.lastname: Lee
authors.affiliation: Department of Internal Medicine, College of Veterinary Medicine, Jeju National University, Jeju, Korea.|Veterinary Medical Research Institute, Jeju National University, Jeju, Korea.
authors.forename: Y M
authors.initials: YM
authors.lastname: Yun
mesh_terms: D000410:Alanine Transaminase / Q000097:blood; D000818:Animals; D002352:Carrier Proteins / Q000235:genetics*; D003300:Copper / Q000378:metabolism / Q000633:toxicity*; D004283:Dog Diseases / Q000235:genetics* / Q000378:metabolism; D004285:Dogs; D005091:Exons; D005260:Female; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics / Q000662:veterinary*; D009154:Mutation; D015995:Prevalence; D056910:Republic of Korea; D016019:Survival Analysis
chemical_list: D002352:Carrier Proteins; D003300:Copper; D000410:Alanine Transaminase
keywords: Copper metabolism; Copper toxicosis; Delete mutation; Survival probability