title: Prenatal diagnosis of muscle-eye-brain disease.
abstract: OBJECTIVE
  To present a family in which it was possible to perform prenatal diagnosis for the recessively inherited muscle-eye-brain disease (MEB) using linkage analysis.
  
  
  METHODS
  Linkage analysis and direct sequencing of the POMGNT1 gene were carried out in a Turkish MEB family with one affected individual. Fetal DNA was obtained from an ongoing pregnancy by chorionic villus sampling (CVS).
  
  
  RESULTS
  Both linkage analysis of the POMGNT1/1p32-p34 region and direct sequencing for the novel familial mutation (R605H) demonstrated that the fetus did not have MEB.
  
  
  CONCLUSIONS
  We report the first case of prenatal diagnosis in MEB by molecular genetic analysis.
authors.affiliation: Hacettepe University, Faculty of Medicine, Department of Medical Biology, Sihhiye, Ankara, Turkey.
authors.forename: Burcu
authors.initials: B
authors.lastname: Balci
authors.forename: Deborah J
authors.initials: DJ
authors.lastname: Morris-Rosendahl
authors.forename: Asli
authors.initials: A
authors.lastname: Celebi
authors.forename: Beril
authors.initials: B
authors.lastname: Talim
authors.forename: Haluk
authors.initials: H
authors.lastname: Topaloglu
authors.forename: Pervin
authors.initials: P
authors.lastname: Dinçer
mesh_terms: D000293:Adolescent; D001927:Brain Diseases / Q000175:diagnosis* / Q000235:genetics; D015193:Chorionic Villi Sampling; D002874:Chromosome Mapping; D003241:Consanguinity; D015785:Eye Diseases, Hereditary / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D017351:N-Acetylglucosaminyltransferases; C443106:protein O-mannose beta-1,2-N-acetylglucosaminyltransferase