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 |
|---|---|
| Pages (from-to) | 133-136 |
| Number of pages | 4 |
| Journal | European Journal of Paediatric Neurology |
| Volume | 12 |
| Issue number | 2 |
| DOIs | |
| State | Published - Mar 1 2008 |
| Externally published | Yes |
Fingerprint
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 journal › Article
}
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 -