Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death

Ieva Miceikaite; Geske Sidsel Bak; Martin Jakob Larsen; Britta Schlott Kristiansen; Pernille Mathiesen Torring

doi:10.1002/ccr3.4507

Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death

Clin Case Rep. 2021 Jul 21;9(7):e04507. doi: 10.1002/ccr3.4507. eCollection 2021 Jul.

Authors

Ieva Miceikaite^{1

2}, Geske Sidsel Bak³, Martin Jakob Larsen^{1

2}, Britta Schlott Kristiansen¹, Pernille Mathiesen Torring¹

Affiliations

¹ Department of Clinical Genetics Odense University Hospital Odense Denmark.
² Human Genetics Unit Department of Clinical Research Faculty of Health Sciences University of Southern Denmark Odense Denmark.
³ Fetal Medicine Unit Department of Obstetrics and Gynecology Odense University Hospital Odense Denmark.

Abstract

We describe two clinical prenatal cases with rare de novo RIT1 variants, which showed more severe clinical manifestations than other Noonan Syndrome genotypes, resulting in fetal death. Extra attention is recommended when these variants are detected.

Keywords: Noonan syndrome; RIT1; cystic hygroma; hydrops fetalis; prenatal screening.

Publication types

Case Reports