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.
authors: Department of Pediatric Neurology, Ankara University School of Medicine of Pediatrics, 06510 Ankara, Turkey. seraptteber@hotmail.com
authors: Serap
authors: S
authors: Teber
authors: Taner
authors: T
authors: Sezer
authors: Mehpare
authors: M
authors: Kafali
authors: M Chiara
authors: MC
authors: Manzini
authors: Berrin
authors: B
authors: Konuk Yüksel
authors: Mustafa
authors: M
authors: Tekin
authors: Suat
authors: S
authors: Fitöz
authors: Christopher A
authors: CA
authors: Walsh
authors: Gülhis
authors: G
authors: Deda
mesh_terms: 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
chemical_list: D017351:N-Acetylglucosaminyltransferases; C443106:protein O-mannose beta-1,2-N-acetylglucosaminyltransferase