Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene

TEBER S., Sezer T., Kafalt M., Manzini M. C., Yuksel B. K., Tekin M., ...Daha Fazla

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, cilt.12, sa.2, ss.133-136, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 12 Sayı: 2
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1016/j.ejpn.2007.06.008
  • Dergi Adı: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.133-136
  • Anahtar Kelimeler: muscle-eye-brain disease, POMGnT1, congenital muscular dystrophy, WALKER-WARBURG-SYNDROME, CONGENITAL MUSCULAR-DYSTROPHIES
  • Ankara Üniversitesi Adresli: Evet

Özet

Muscle-eye-brain (MEB) disease is an autosomal recessive disorder characterized by a broad clinical spectrum including congenital muscular dystrophy, ocular abnormalities, and brain malformation (type-If lissencephaly). Herein, we report on two Turkish siblings with a homozygous mutation in the POMGnT1 gene. A 6-year-old sibling has a severe form of MEB disease, which in some aspects is more suitable with the diagnosis of Walker-Warburg syndrome. However, the same mutation resulted in a less severe form of MEB in the older sibling, who is 14 years old. These two cases suggest that POMGnT1 mutations may cause MEB disease with different phenotypes even in the same family (C) 2007 European Paediatric Neurology Society Published by Elsevier Ltd. All rights reserved.