Prenatal diagnosis of muscle-eye-brain disease

Balci B., Morris-Rosendahl D. J., Celebi A., Talim B., Topaloglu H., Dincer P. R.

PRENATAL DIAGNOSIS, vol.27, no.1, pp.51-54, 2007 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 27 Issue: 1
  • Publication Date: 2007
  • Doi Number: 10.1002/pd.1622
  • Journal Name: PRENATAL DIAGNOSIS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.51-54
  • Hacettepe University Affiliated: Yes

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 (C) 2007 John Wiley & Sons, Ltd.