Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.

ABSTRACT:

Background

Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in genes associated with the RAS / mitogen-activated protein kinase (MAPK) pathway. In several studies PTPN11 is one of the genes with a significant number of pathogenic variants in NS-affected patients. Therefore, clinically diagnosed NS individuals are initially tested for pathogenic variants in PTPN11 gene to confirm the relationship before studying genotype-phenotype correlation.

Methods

Individuals (363) with clinically diagnosed NS from four hospitals in South India were recruited and the exons of PTPN11 gene were sequenced.

Results

Thirty-two previously described pathogenic variants in eight different exons in PTPN11 gene were detected in 107 p

SUBMITTER: Athota JP 

PROVIDER: S-EPMC7068896 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature