Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same Family.

ABSTRACT:

Introduction

Mosaic variegated aneuploidy syndrome 2 (MVA2) and Noonan syndrome (NS) are 2 genetic disorders with overlapping clinical features, including intrauterine growth retardation, dysmorphic features, and heart defects. Whereas NS is a well-known congenital entity, MVA2 is rare, and only a few cases have been reported in the literature.

Case presentation

We report on the molecular findings in 3 patients with short stature phenotypes from the same family. By considering the clinical overlap between the patients, a common cause for the small stature was assumed in the beginning, but by whole exome analysis (WES) it turned out that the phenotypes were caused by different pathogenic variants in CEP57 and PTPN11, respectively. As a result, both MVA2 and NS o

SUBMITTER: Hubner CT 

PROVIDER: S-EPMC9801314 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature