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 Citations (Scopus)

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

Fingerprint

Walker-Warburg Syndrome
Mutation
Genes
Eye Abnormalities
Lissencephaly
Muscular Dystrophies
Brain
Phenotype
Muscles
protein O-mannose beta-1,2-N-acetylglucosaminyltransferase

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology

Cite this

Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene. / Teber, Serap; Sezer, Taner; Kafali, Mehpare; Chiara Manzini, M.; Konuk Yüksel, Berrin; Tekin, Mustafa; Fitöz, Suat; Walsh, Christopher A.; Deda, Gülhis.

In: European Journal of Paediatric Neurology, Vol. 12, No. 2, 01.03.2008, p. 133-136.

Research output: Contribution to journalArticle

Teber, S, Sezer, T, Kafali, M, Chiara Manzini, M, Konuk Yüksel, B, Tekin, M, Fitöz, S, Walsh, CA & Deda, G 2008, 'Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene', European Journal of Paediatric Neurology, vol. 12, no. 2, pp. 133-136. https://doi.org/10.1016/j.ejpn.2007.06.008
Teber, Serap ; Sezer, Taner ; Kafali, Mehpare ; Chiara Manzini, M. ; Konuk Yüksel, Berrin ; Tekin, Mustafa ; Fitöz, Suat ; Walsh, Christopher A. ; Deda, Gülhis. / Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene. In: European Journal of Paediatric Neurology. 2008 ; Vol. 12, No. 2. pp. 133-136.
@article{9e7836c168be449faca54e7a07cc0904,
title = "Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene",
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.",
keywords = "Congenital muscular dystrophy, Muscle-eye-brain disease, POMGnT1",
author = "Serap Teber and Taner Sezer and Mehpare Kafali and {Chiara Manzini}, M. and {Konuk Y{\"u}ksel}, Berrin and Mustafa Tekin and Suat Fit{\"o}z and Walsh, {Christopher A.} and G{\"u}lhis Deda",
year = "2008",
month = "3",
day = "1",
doi = "10.1016/j.ejpn.2007.06.008",
language = "English",
volume = "12",
pages = "133--136",
journal = "European Journal of Paediatric Neurology",
issn = "1090-3798",
publisher = "W.B. Saunders Ltd",
number = "2",

}

TY - JOUR

T1 - Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene

AU - Teber, Serap

AU - Sezer, Taner

AU - Kafali, Mehpare

AU - Chiara Manzini, M.

AU - Konuk Yüksel, Berrin

AU - Tekin, Mustafa

AU - Fitöz, Suat

AU - Walsh, Christopher A.

AU - Deda, Gülhis

PY - 2008/3/1

Y1 - 2008/3/1

N2 - 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.

AB - 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.

KW - Congenital muscular dystrophy

KW - Muscle-eye-brain disease

KW - POMGnT1

UR - http://www.scopus.com/inward/record.url?scp=39749149082&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=39749149082&partnerID=8YFLogxK

U2 - 10.1016/j.ejpn.2007.06.008

DO - 10.1016/j.ejpn.2007.06.008

M3 - Article

C2 - 17881266

AN - SCOPUS:39749149082

VL - 12

SP - 133

EP - 136

JO - European Journal of Paediatric Neurology

JF - European Journal of Paediatric Neurology

SN - 1090-3798

IS - 2

ER -