PTPN11 c.853T>C (p.Phe285Leu) mutation in Noonan syndrome with chylothorax.

ABSTRACT: Recent advances in molecular and genetic approaches have identified a number of genes responsible for Noonan syndrome (NS). However, there has been limited analysis of the genotype-phenotype correlation of NS patients. Here, we report the case of a Japanese patient with NS possessing a c.853T>C (p.Phe285Leu) mutation in the gene encoding protein-tyrosine phosphatase, nonreceptor-type 11 (PTPN11). To clarify genotype-phenotype correlations, the accumulation of data on the clinical course of patients with genetically confirmed NS is important. We summarized the cases with mutations at PTPN11 position 285 and found that c854T>C (p.Phe285Ser) is the most common mutation at this position. In these reports, although little is mentioned about the genotype-phenotype correlation, two

SUBMITTER: Watanabe D 

PROVIDER: S-EPMC9748315 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature