Human Genetics & Embryology

Elisabeth Krampl- Bettelheim

Publications

• Research Article
  Fetal Hydrops in Combination with Gonadoblastoid Testicular Dysplasia May Represent a Lethal Type of Noonan Syndrome
  Author(s): Theresa Reischer, Maximilian Schmid, Sukirthini Balendran, Manuel Nistal, Julia Vodopiutz, Elisabeth Krampl- Bettelheim, Niko Popitsch, Sandra Liebmann- Reindl and Berthold StreubelTheresa Reischer, Maximilian Schmid, Sukirthini Balendran, Manuel Nistal, Julia Vodopiutz, Elisabeth Krampl- Bettelheim, Niko Popitsch, Sandra Liebmann- Reindl and Berthold Streubel
  
  Objectives: Fetal gonadoblastoid testicular dysplasia is a rare finding. The combination with typical features of Noonan syndrome has never been described so far. We performed genetic testing including whole exome sequencing in two cases with fetal hydrops, congenital heart disease and gonadoblastoid testicular dysplasia. Methods: Exome sequencing was performed in the index case, where high quality DNA was isolated from fetal blood. In the second case and in five further gonadoblastoma samples, conventional Sanger sequencing was performed on DNA isolated from formalin fixed, paraffin embedded tissue. Results: Whole exome sequencing of the index case revealed a pathogenic mutation in the RIT1 gene (c.270G>A (p.Met90Ile)), leading to the diagnosis of Noonan syndrome type 8. In case 2, Sanger seque.. Read More»
  DOI: 10.4172/2161-0436.1000137

  Abstract PDF