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

Serap Teber, Taner Sezer, Mehpare Kafali, M. Chiara Manzini, Berrin Konuk Yüksel, Mustafa Tekin, Suat Fitöz, Christopher A. Walsh, Gülhis Deda

Research output: Contribution to journalArticle

17 Scopus citations

Abstract

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-II 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.

Original languageEnglish (US)
Pages (from-to)133-136
Number of pages4
JournalEuropean Journal of Paediatric Neurology
Volume12
Issue number2
DOIs
StatePublished - Mar 1 2008
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Keywords

  • Congenital muscular dystrophy
  • Muscle-eye-brain disease
  • POMGnT1

Fingerprint Dive into the research topics of 'Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene'. Together they form a unique fingerprint.

Cite this