Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.
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.
Teber
Serap
S
Department of Pediatric Neurology, Ankara University School of Medicine of Pediatrics, 06510 Ankara, Turkey. seraptteber@hotmail.com
Sezer
Taner
T
Kafali
Mehpare
M
Manzini
M Chiara
MC
Konuk Yüksel
Berrin
B
Tekin
Mustafa
M
Fitöz
Suat
S
Walsh
Christopher A
CA
Deda
Gülhis
G
D000293:Adolescent; D001927:Brain Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002648:Child; D004252:DNA Mutational Analysis; D005128:Eye Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D006720:Homozygote; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D054082:Lissencephaly / Q000150:complications / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009135:Muscular Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics / Q000502:physiology; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D010641:Phenotype; D011014:Pneumonia / Q000209:etiology; D012772:Shock, Septic / Q000209:etiology
D017351:N-Acetylglucosaminyltransferases; C443106:protein O-mannose beta-1,2-N-acetylglucosaminyltransferase