Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype

Yis U., Uyanik G., Heck P. B., Smitka M., Nobel H., Ebinger F., ...Daha Fazla

NEUROMUSCULAR DISORDERS, cilt.21, sa.1, ss.20-30, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 21 Sayı: 1
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1016/j.nmd.2010.08.007
  • Dergi Adı: NEUROMUSCULAR DISORDERS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.20-30
  • Anahtar Kelimeler: Congenital muscular dystrophy, Fukutin mutation, Walker-Warburg syndrome, Fukuyama congenital muscular dystrophy, FCMD, FKTN, FUKUYAMA-TYPE, ALPHA-DYSTROGLYCAN, RETROTRANSPOSAL INSERTION, GENE-MUTATIONS, DEFECTIVE GLYCOSYLATION, ABNORMAL GLYCOSYLATION, DILATED CARDIOMYOPATHY, HYPOGLYCOSYLATION, GENOTYPE, ORIGIN
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Six genes including POMT1, POMT2, POMGNTI, FKRP, Fukutin (FKTN) and LARGE encode proteins involved in the glycosylation of alpha-dystroglycan (alpha-DG). Abnormal glycosylation of alpha-DG is a common finding in Walker-Warburg syndrome (WWS), muscle-eye brain disease (MEB), Fukuyama congenital muscular dystrophy (FCMD), congenital muscular dystrophy types 1C and ID and some forms of autosomal recessive limb-girdle muscular dystrophy (LGMD2I, LGMD2K, LGMD2M), and is associated with mutations in the above genes. FCMD, caused by mutations in Fukutin (FKTN), is most frequent in Japan, but an increasing number of FKTN mutations are being reported outside of Japan. We describe four new patients with FKTN mutations and phenotypes ranging from: severe WWS in a Greek-Croatian patient, to congenital muscular dystrophy and cobblestone lissencephaly resembling MEB-FCMD in two Turkish patients, and limb-girdle muscular dystrophy and no mental retardation in a German patient. Four of the five different FKTN mutations have not been previously described. (C) 2010 Elsevier B.V. All rights reserved.