title: Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy.
abstract: BACKGROUND
  Mutations in FKTN encoding for fukutin cause Fukuyama-type congenital muscular dystrophy characterized by severe muscle wasting and hypotonia with mental retardation. Fukuyama-type congenital muscular dystrophy is a recessive genetic trait. FKTN mutations in patients with dilated cardiomyopathy (DCM) have been investigated by our research group. The patients showed hyper-CKemia with mild or no muscle weakness and without mental retardation, suggesting that the clinical spectrum of FKTN mutations are wider than previously thought. The current study was designed to further explore the association of FKTN mutations with DCM or hypertrophic cardiomyopathy (HCM).
  
  
  RESULTS
  A total of 172 patients with DCM, 144 patients with familial HCM and 384 control individuals were analyzed for FKTN mutations. There was a DCM patient who was a compound heterozygote of a 3-kb insertion mutation and a missense mutation Cys101Phe. The patient showed hyper-CKemia with mild muscle involvement and no brain involvement. In contrast, 2 other DCM patients and 3 controls were heterozygous for the insertion mutation and normal allele, showing that the heterozygous insertion mutation itself was not associated with DCM. No mutation was found in the HCM patients.
  
  
  CONCLUSIONS
  These observations indicated that the compound heterozygous FKTN mutation was a rare cause of DCM. Hyper-CKemia might be indicative of FKTN mutation in DCM.
authors.affiliation: Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Takuro
authors.initials: T
authors.lastname: Arimura
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: Terumi
authors.initials: T
authors.lastname: Murakami
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Oya
authors.forename: Sayaka
authors.initials: S
authors.lastname: Funabe
authors.forename: Eri
authors.initials: E
authors.lastname: Arikawa-Hirasawa
authors.forename: Nobutaka
authors.initials: N
authors.lastname: Hattori
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.forename: Akinori
authors.initials: A
authors.lastname: Kimura
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002311:Cardiomyopathy, Dilated / Q000208:ethnology / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D003402:Creatine Kinase / Q000097:blood; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008565:Membrane Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000235:genetics; D016254:Mutagenesis, Insertional / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*
chemical_list: C113587:FKTN protein, human; D008565:Membrane Proteins; D003402:Creatine Kinase