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Updated: Jul 18, 2026
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Published on: November 12, 2019
Prenatal diagnosis of muscle-eye-brain disease
Burcu Balci1, Deborah J Morris-Rosendahl, Asli Celebi
1Hacettepe University, Faculty of Medicine, Department of Medical Biology, Sihhiye, Ankara, Turkey.
Objectives:
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.
Conclusion:
We report the first case of prenatal diagnosis in MEB by molecular genetic analysis.
