Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.

ABSTRACT: RASopathies are caused by variants in genes encoding components or modulators of the RAS/MAPK signaling pathway. Noonan syndrome is the most common entity among this group of disorders and is characterized by heart defects, short stature, variable developmental delay, and typical facial features. Heterozygous variants in SOS2, encoding a guanine nucleotide exchange factor for RAS, have recently been identified in patients with Noonan syndrome. The number of published cases with SOS2-related Noonan syndrome is still limited and little is known about genotype-phenotype correlations. We collected previously unpublished clinical and genotype data from 17 individuals carrying a disease-causing SOS2 variant. Most individuals had one of the previously reported dominant pathogenic variants; only f

SUBMITTER: Lissewski C 

PROVIDER: S-EPMC7852574 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature