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

doi:10.1016/j.ejpn.2007.06.008

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 journal › Article › peer-review

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 language	English (US)
Pages (from-to)	133-136
Number of pages	4
Journal	European Journal of Paediatric Neurology
Volume	12
Issue number	2
DOIs	https://doi.org/10.1016/j.ejpn.2007.06.008
State	Published - Mar 2008
Externally published	Yes

Keywords

Congenital muscular dystrophy
Muscle-eye-brain disease
POMGnT1

ASJC Scopus subject areas

Clinical Neurology
Pediatrics, Perinatology, and Child Health
Neurology

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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, 03.2008, p. 133-136.

Research output: Contribution to journal › Article › peer-review

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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.",

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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

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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.

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

Abstract

Keywords

ASJC Scopus subject areas

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