title: Genetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern China.
abstract: OBJECTIVE
  Wilson's disease (WD), characterized by a disorder of copper metabolism, is an inherited autosomal recessive disease caused by mutations in the ATP7B gene.
  
  
  METHODS
  To explore genotype-phenotype correlations in Chinese WD patients and to evaluate the frequency of the ATP7B mutations, we described 77 clinically and biochemically confirmed WD patients and detected mutations in ten WD families from southwestern China. Clinical features were presented and all the exons of the ATP7B gene were screened.
  
  
  RESULTS
  The appearance of Kayser-Fleischer (K-F) rings was closely related to onset age, particularly before 10 years old. For those patients with predominantly neurological symptoms, MRI was the most sensitive and preferred examination. Eight mutations of the ATP7B gene were detected including seven reported mutations (c.2302dup, c.2304delC, c.2333 G>T, c.2621 C>T, c.2755 C>G, c.2975 C>T and c.1366 G>C) and four novel mutations (c.3446 G>A, c.3767insCA, c.3406 G>A and c.3700delG). c.2333 G>T was detected in 6/20 alleles (30%), accounting for the largest proportion, which could be regarded as a mutation hotspot in this region.
  
  
  CONCLUSIONS
  Our study extends the mutation spectrum of ATP7B and analyzes the relationship between mutations in the ATP7B gene and clinical findings of WD.
authors.affiliation: Department of Medical Genetics, Third Military Medical University, Chongqing, P.R. China; The Second Battalion, Undergraduate Student Brigade, Third Military Medical University, Chongqing, P.R. China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Department of Medical Genetics, Third Military Medical University, Chongqing, P.R. China; The Second Battalion, Undergraduate Student Brigade, Third Military Medical University, Chongqing, P.R. China.
authors.forename: Hao
authors.initials: H
authors.lastname: Zhou
authors.affiliation: Department of Medical Genetics, Third Military Medical University, Chongqing, P.R. China. Electronic address: guohong02@gmail.com.
authors.forename: Hong
authors.initials: H
authors.lastname: Guo
authors.affiliation: Department of Medical Genetics, Third Military Medical University, Chongqing, P.R. China.
authors.forename: Yun
authors.initials: Y
authors.lastname: Bai
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000483:Alleles; D044466:Asian People / Q000235:genetics; D027682:Cation Transport Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D003300:Copper / Q000378:metabolism; D000073840:Copper-Transporting ATPases; D005260:Female; D005838:Genotype; D006527:Hepatolenticular Degeneration / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011859:Radiography; D055815:Young Adult
chemical_list: D027682:Cation Transport Proteins; D003300:Copper; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases
keywords: ATP7B; Family; Genotype–phenotype correlation; Mutation; Wilson's disease