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 |
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container_title | Nagoya journal of medical science |
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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 |
format | Article |
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). 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.</description><identifier>ISSN: 0027-7622</identifier><identifier>EISSN: 2186-3326</identifier><identifier>DOI: 10.18999/nagjms.84.4.871</identifier><identifier>PMID: 36544606</identifier><language>eng</language><publisher>Japan: Nagoya University</publisher><subject>Case Report ; Chylothorax - genetics ; Humans ; Mutation - genetics ; Noonan Syndrome - complications ; Noonan Syndrome - genetics ; Phenotype ; Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics</subject><ispartof>Nagoya journal of medical science, 2022-11, Vol.84 (4), p.871-876</ispartof><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9748315/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9748315/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/36544606$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Watanabe, Daisuke</creatorcontrib><creatorcontrib>Hasebe, Yohei</creatorcontrib><creatorcontrib>Kasai, Shin</creatorcontrib><creatorcontrib>Shinohara, Tamao</creatorcontrib><creatorcontrib>Maebayashi, Yuki</creatorcontrib><creatorcontrib>Katsumata, Nobuyuki</creatorcontrib><creatorcontrib>Nemoto, Atsushi</creatorcontrib><creatorcontrib>Naitoh, Atsushi</creatorcontrib><title>PTPN11 c.853T>C (p.Phe285Leu) mutation in Noonan syndrome with chylothorax</title><title>Nagoya journal of medical science</title><addtitle>Nagoya J Med Sci</addtitle><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.</description><subject>Case Report</subject><subject>Chylothorax - genetics</subject><subject>Humans</subject><subject>Mutation - genetics</subject><subject>Noonan Syndrome - complications</subject><subject>Noonan Syndrome - genetics</subject><subject>Phenotype</subject><subject>Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics</subject><issn>0027-7622</issn><issn>2186-3326</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkDtPwzAYRS0EoqWwMyGPMCTYnx-xl0qo4qmqZAhz5MROk6qxqyQt9N9TiYdgusPRPbq6CF1SElOltb71Zrlq-1jxmMcqoUdoDFTJiDGQx2hMCCRRIgFG6KzvV4RwrYk-RSMmBeeSyDF6SbN0QSkuYyVYNp3h602c1g6UmLvtDW63gxma4HHj8SIEbzzu9952oXX4vRlqXNb7dRjq0JmPc3RSmXXvLr5zgt4e7rPZUzR_fXye3c2jFSgYIq4qyxxNRAHaOlOIkjJICqasdBY0EcxY7Sw1pAAoK9CFq4Qgh0mgFLeOTdD0y7vZFq2zpfNDZ9b5pmta0-3zYJr8P_FNnS_DLtcJV4yKg-Dqr-C3-fMK-wRzfGUz</recordid><startdate>20221101</startdate><enddate>20221101</enddate><creator>Watanabe, Daisuke</creator><creator>Hasebe, Yohei</creator><creator>Kasai, Shin</creator><creator>Shinohara, Tamao</creator><creator>Maebayashi, Yuki</creator><creator>Katsumata, Nobuyuki</creator><creator>Nemoto, Atsushi</creator><creator>Naitoh, Atsushi</creator><general>Nagoya University</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>5PM</scope></search><sort><creationdate>20221101</creationdate><title>PTPN11 c.853T>C (p.Phe285Leu) mutation in Noonan syndrome with chylothorax</title><author>Watanabe, Daisuke ; Hasebe, Yohei ; Kasai, Shin ; Shinohara, Tamao ; Maebayashi, Yuki ; Katsumata, Nobuyuki ; Nemoto, Atsushi ; Naitoh, Atsushi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-j282t-48fd3e175b29deab5c1327b38d6ed29053ad9ed1a0b22cf29bef550e282884de3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Case Report</topic><topic>Chylothorax - genetics</topic><topic>Humans</topic><topic>Mutation - genetics</topic><topic>Noonan Syndrome - complications</topic><topic>Noonan Syndrome - genetics</topic><topic>Phenotype</topic><topic>Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics</topic><toplevel>online_resources</toplevel><creatorcontrib>Watanabe, Daisuke</creatorcontrib><creatorcontrib>Hasebe, Yohei</creatorcontrib><creatorcontrib>Kasai, Shin</creatorcontrib><creatorcontrib>Shinohara, Tamao</creatorcontrib><creatorcontrib>Maebayashi, Yuki</creatorcontrib><creatorcontrib>Katsumata, Nobuyuki</creatorcontrib><creatorcontrib>Nemoto, Atsushi</creatorcontrib><creatorcontrib>Naitoh, Atsushi</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Nagoya journal of medical science</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Watanabe, Daisuke</au><au>Hasebe, Yohei</au><au>Kasai, Shin</au><au>Shinohara, Tamao</au><au>Maebayashi, Yuki</au><au>Katsumata, Nobuyuki</au><au>Nemoto, Atsushi</au><au>Naitoh, Atsushi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>PTPN11 c.853T>C (p.Phe285Leu) mutation in Noonan syndrome with chylothorax</atitle><jtitle>Nagoya journal of medical science</jtitle><addtitle>Nagoya J Med Sci</addtitle><date>2022-11-01</date><risdate>2022</risdate><volume>84</volume><issue>4</issue><spage>871</spage><epage>876</epage><pages>871-876</pages><issn>0027-7622</issn><eissn>2186-3326</eissn><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 (
). 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.</abstract><cop>Japan</cop><pub>Nagoya University</pub><pmid>36544606</pmid><doi>10.18999/nagjms.84.4.871</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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source | MEDLINE; Freely Accessible Japanese Titles; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Alma/SFX Local Collection; PubMed Central Open Access |
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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