title: Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.
abstract: BACKGROUND
  To evaluate clinical, genetic, and radiologic features of our patients with muscle-eye-brain disease.
  
  
  METHODS
  The data of patients who were diagnosed with muscle-eye-brain disease from a cohort of patients with congenital muscular dystrophy in the Division of Pediatric Neurology of Dokuz Eylül University School of Medicine and Gaziantep Children's Hospital between 2005 and 2013 were analyzed retrospectively.
  
  
  RESULTS
  From a cohort of 34 patients with congenital muscular dystrophy, 12 patients from 10 families were diagnosed with muscle-eye-brain disease. The mean age of the patients was 9 ± 5.5 years (2-19 years). Mean serum creatine kinase value was 2485.80 ± 1308.54 IU/L (700-4267 IU/L). All patients presented with muscular hypotonia at birth followed by varying degrees of spasticity and exaggerated deep tendon reflexes in later stages of life. Three patients were able to walk. The most common ophthalmologic and radiologic abnormalities were cataracts, retinal detachment, periventricular white matter abnormalities, ventriculomegaly, pontocerebellar hypoplasia, and multiple cerebellar cysts. All of the patients had mutations in the POMGNT1 gene. The most common mutation detected in 66% of patients was c.1814 G > A (p.R605H). Two novel mutations were identified.
  
  
  CONCLUSIONS
  We suggest that muscle-eye-brain disease is a relatively common muscular dystrophy in Turkey. It should be suspected in patients with muscular hypotonia, increased creatine kinase, and structural eye and brain abnormalities. The c.1814 G > A mutation in exon 21 of the POMGNT1 gene is apparently a common mutation in the Turkish population. Individuals with this mutation show classical features of muscle-eye-brain disease, but others may exhibit a milder phenotype and retain the ability to walk independently. Congenital muscular dystrophy patients from Turkey carrying the clinical and radiologic features of muscle-eye-brain disease should be evaluated for mutations in POMGNT1 gene.
authors.affiliation: Dokuz Eylül University, School of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, Turkey. Electronic address: ulyis@yahoo.com.
authors.forename: Uluç
authors.initials: U
authors.lastname: Yiş
authors.affiliation: Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Gökhan
authors.initials: G
authors.lastname: Uyanik
authors.affiliation: Institute of Human Genetics, Albert-Ludwigs University Medical Centre Freiburg, Freiburg, Germany.
authors.forename: Deborah Morris
authors.initials: DM
authors.lastname: Rosendahl
authors.affiliation: Gaziantep Children's Hospital, Division of Child Neurology, Gaziantep, Turkey.
authors.forename: Kürşat Bora
authors.initials: KB
authors.lastname: Carman
authors.affiliation: Dokuz Eylül University, School of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, Turkey.
authors.forename: Erhan
authors.initials: E
authors.lastname: Bayram
authors.affiliation: Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Marisol
authors.initials: M
authors.lastname: Heise
authors.affiliation: Department of Medical Biology, Faculty of Medicine, Balcali Hospital, University of Cukurova, Adana, Turkey.
authors.forename: Gamze
authors.initials: G
authors.lastname: Cömertpay
authors.affiliation: Dokuz Eylül University, School of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, Turkey.
authors.forename: Semra Hız
authors.initials: SH
authors.lastname: Kurul
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D003941:Diagnostic Techniques, Ophthalmological; D005190:Family; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D010641:Phenotype; D014421:Turkey; D058494:Walker-Warburg Syndrome / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D055815:Young Adult
chemical_list: D017351:N-Acetylglucosaminyltransferases; C443106:protein O-mannose beta-1,2-N-acetylglucosaminyltransferase
keywords: POMGNT1 gene; Turkey; muscle-eye-brain disease; neuroradiology; ophthalmology