Variants of the PTPN11 Gene in Mexican Patients with Noonan Syndrome.

ABSTRACT: Background/Objectives: Noonan syndrome (NS) is a genetic multisystem disease characterized by distinctive facial features, short stature, chest deformity, and congenital heart defects. NS is caused by gene variants of the RAS/MAPK pathway, with PTPN11 accounting for about 50% of cases. This study aimed to identify PTPN11 pathogenic variants in Mexican patients with NS to enhance our understanding of the disease in this population. Methods: This study included 91 probands and 60 relatives, all of which were clinically evaluated by a geneticist. Sanger sequencing was used to screen the entire PTPN11 gene. Results: Twenty-one previously reported pathogenic variants were identified in 47.3% of the probands. The most frequently occurring were p.Asn308As

SUBMITTER: Zepeda-Olmos PM 

PROVIDER: S-EPMC11593480 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature