Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype

Neuromuscul Disord. 2009 Mar;19(3):182-8. doi: 10.1016/j.nmd.2008.12.005.


Fukuyama congenital muscular dystrophy (FCMD) is frequent in Japan, due to a founder mutation of the fukutin gene (FKTN). Outside Japan, FKTN mutations have only been reported in a few patients with a wide spectrum of phenotypes from Walker-Warburg syndrome to limb-girdle muscular dystrophy (LGMD2M). We studied four new Caucasian patients from three unrelated families. All showed raised serum CK initially isolated in one case and muscular dystrophy. Immunohistochemical studies and haplotype analysis led us to search for mutations in FKTN. Two patients (two sisters) presented with congenital muscular dystrophy, mental retardation, and posterior fossa malformation including cysts, and brain atrophy at Brain MRI. The other two patients had normal intelligence and brain MRI. Sequencing of the FKTN gene identified three previously described mutations and two novel missense mutations. Outside Japan, fukutinopathies are associated with a large spectrum of phenotypes from isolated hyperCKaemia to severe CMD, showing a clear overlap with that of FKRP.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Atrophy / genetics
  • Atrophy / pathology
  • Atrophy / physiopathology
  • Brain / abnormalities
  • Brain / pathology
  • Brain / physiopathology
  • Child
  • Creatine Kinase / analysis
  • Creatine Kinase / blood
  • DNA Mutational Analysis
  • Fatal Outcome
  • Female
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / ethnology
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Intellectual Disability / physiopathology
  • Male
  • Membrane Proteins / genetics*
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Muscular Dystrophies / physiopathology
  • Mutation / genetics*
  • Nervous System Malformations / genetics*
  • Nervous System Malformations / pathology
  • Nervous System Malformations / physiopathology
  • Phenotype
  • Syndrome
  • White People
  • Young Adult


  • FKTN protein, human
  • Genetic Markers
  • Membrane Proteins
  • Creatine Kinase