A new mutation of the fukutin gene in a non-Japanese patient

Ann Neurol. 2003 Mar;53(3):392-6. doi: 10.1002/ana.10491.


Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome, and muscle-eye-brain disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, cobblestone lissencephaly, and eye anomalies. FCMD is frequent in Japan, but no FCMD patient with confirmed fukutin gene mutations has been identified in a non-Japanese population. Here, we describe a Turkish CMD patient with severe brain and eye anomalies. Sequence analysis of the patient's DNA identified a homozygous 1bp insertion mutation in exon 5 of the fukutin gene. To our knowledge, this is the first case worldwide in which a fukutin mutation has been found outside the Japanese population. This report emphasizes the importance of considering fukutin mutations for diagnostic purposes outside of Japan.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Female
  • Humans
  • Infant
  • Japan
  • Male
  • Membrane Proteins
  • Molecular Sequence Data
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / diagnostic imaging
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / physiopathology
  • Pedigree
  • Point Mutation / genetics*
  • Proteins / genetics*
  • Radiography


  • FKTN protein, human
  • Membrane Proteins
  • Proteins