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

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 (...

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Veröffentlicht in:Nagoya journal of medical science 2022-11, Vol.84 (4), p.871-876
Hauptverfasser: Watanabe, Daisuke, Hasebe, Yohei, Kasai, Shin, Shinohara, Tamao, Maebayashi, Yuki, Katsumata, Nobuyuki, Nemoto, Atsushi, Naitoh, Atsushi
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container_issue 4
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container_title Nagoya journal of medical science
container_volume 84
creator Watanabe, Daisuke
Hasebe, Yohei
Kasai, Shin
Shinohara, Tamao
Maebayashi, Yuki
Katsumata, Nobuyuki
Nemoto, Atsushi
Naitoh, Atsushi
description 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 ( ). 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 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 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.
doi_str_mv 10.18999/nagjms.84.4.871
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subjects Case Report
Chylothorax - genetics
Humans
Mutation - genetics
Noonan Syndrome - complications
Noonan Syndrome - genetics
Phenotype
Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics
title PTPN11 c.853T>C (p.Phe285Leu) mutation in Noonan syndrome with chylothorax
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