A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation

Yis U., Uyanik G., Kurul S., Dirik E., Ozer E., Gross C., ...Daha Fazla

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, cilt.11, sa.1, ss.46-49, 2007 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 11 Sayı: 1
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1016/j.ejpn.2006.10.007
  • Dergi Adı: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.46-49
  • Anahtar Kelimeler: congenital muscular dystrophy, alpha-dystroglycanopathy, POMT1 gene, CONGENITAL MUSCULAR-DYSTROPHIES, MENTAL-RETARDATION, DYSTROGLYCAN, PHENOTYPE, DISRUPTION, GENE
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Walker-Warburg syndrome (WWS), the most severe alpha-dystroglycanopathy, is characterized by brain and eye anomalies, and congenital muscular dystrophy (CMD). So far at least four genes (POMT1, POMT2, Fukutin, and FKRP gene) have been implicated in WWS, accounting for about 30% of all cases. We report a male patient with WWS resulting from a homozygous nonsense mutation (R514X) in the POMT1 gene. The patient had congenital hydrocephalus which was detected at 29 weeks of gestation. A brain MRI obtained after birth revealed type II lissencephaly, hydrocephalus, and pontocerebellar hypoplasia. The case also exhibited severe ocular malformations and muscular hypotonia due to CMD. (c) 2006 Published by Elsevier Ltd. on behalf of European Paediatric Neurology Society.