Prenatal diagnosis of muscle‐eye‐brain disease
- 11 December 2006
- journal article
- case report
- Published by Wiley in Prenatal Diagnosis
- Vol. 27 (1) , 51-54
Abstract
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. Copyright © 2007 John Wiley & Sons, Ltd.Keywords
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