PTPN11 c.853T>C (p.Phe285Leu) mutation in Noonan syndrome with chylothorax.
Nagoya J Med Sci
; 84(4): 871-876, 2022 Nov.
Article
em En
| MEDLINE
| ID: mdl-36544606
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 patients with NS possessing the PTPN11 c854T>C (p.Phe285Ser) mutation accompanied by chylothorax are described. There is still a lack of detailed information about the phenotype associated with the c.853T>C (p.Phe285Leu) mutation observed in this case. More research is needed to better understand these cases.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Quilotórax
/
Síndrome de Noonan
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Nagoya J Med Sci
Ano de publicação:
2022
Tipo de documento:
Article