Prenatal diagnosis of muscle-eye-brain disease.
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.
Balci
Burcu
B
Hacettepe University, Faculty of Medicine, Department of Medical Biology, Sihhiye, Ankara, Turkey.
Morris-Rosendahl
Deborah J
DJ
Celebi
Asli
A
Talim
Beril
B
Topaloglu
Haluk
H
Dinçer
Pervin
P
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
D017351:N-Acetylglucosaminyltransferases; C443106:protein O-mannose beta-1,2-N-acetylglucosaminyltransferase