Somatic PIK3CA mutations in seven patients with PIK3CA‐related overgrowth spectrum
Somatic mutations in PIK3CA cause many overgrowth syndromes that have been recently coined the “PIK3CA‐Related Overgrowth Spectrum.” Here, we present seven molecularly confirmed patients with PIK3CA‐Related Overgrowth Spectrum, including patients with Congenital Lipomatous Overgrowth, Vascular Malfo...
Gespeichert in:
| Veröffentlicht in: | American journal of medical genetics. Part A 2017-04, Vol.173 (4), p.978-984 |
|---|---|
| Hauptverfasser: | , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 984 |
|---|---|
| container_issue | 4 |
| container_start_page | 978 |
| container_title | American journal of medical genetics. Part A |
| container_volume | 173 |
| creator | Yeung, Kit San Ip, Janice Jing Kun Chow, Chin Pang Kuong, Evelyn Yue Ling Tam, Paul Kwong‐Hang Chan, Godfrey Chi‐Fung Chung, Brian Hon‐Yin |
| description | Somatic mutations in PIK3CA cause many overgrowth syndromes that have been recently coined the “PIK3CA‐Related Overgrowth Spectrum.” Here, we present seven molecularly confirmed patients with PIK3CA‐Related Overgrowth Spectrum, including patients with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal syndrome, Klippel–Trenaunay syndrome, lymphatic malformation and two with atypical phenotypes that cannot be classified into existing disease categories. The literature on PIK3CA‐Related Overgrowth Spectrum, suggests that PIK3CA c.1258T>C; p.(Cys420Arg), c.1624G>A; p.(Glu542Lys), c.1633G>A; p.(Glu545Lys), c.3140A>G; p.(His1047Arg), and c.3140A>T; p.(His1047Leu) can be identified in approximately 90% of patients without brain overgrowth. Therefore, droplet digital polymerase chain reaction targeting these mutation hotspots could be used as the first‐tier genetic test on patients with PIK3CA‐Related Overgrowth Spectrum who do not have signs of overgrowth in their central nervous system. © 2017 Wiley Periodicals, Inc. |
| doi_str_mv | 10.1002/ajmg.a.38105 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1888964911</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1880087072</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3975-44181f39b6c429d08a5d970484642f9a5432bd9fbbb6f0856b6e05440b2f3adf3</originalsourceid><addsrcrecordid>eNqN0btOwzAYBWALgWgpbMwoEgsDLb4m9hhVUApFIFFmy0mckio37KRVNx6BZ-RJcGnpwICYfPt0pN8HgFMEBwhCfKXmxWygBoQjyPZAFzGG-5QTsr_bY9YBR9bOISSQBf4h6GBOMEeEdsH0uSpUk8Xe0_ieDEOvaBt3rErrZaVn9UKXXu0udNlYb5k1r1v3-f5hdK4anXjVQpuZqZbuzdY6bkxbHIODVOVWn2zXHni5uZ4Ob_uTx9F4GE76MREB61OKOEqJiPyYYpFArlgiAkg59SlOhWKU4CgRaRRFfgo58yNfQ0YpjHBKVJKSHrjY5Namemu1bWSR2VjnuSp11VqJOOfCpwKh_1AIeQAD7Oj5LzqvWlO6QZwKREAQdv_bA5cbFZvKWqNTWZusUGYlEZTrYuS6GKnkdzGOn21D26jQyQ7_NOEA3YBlluvVn2EyvHsYhZvcL_KPmIU</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1879731248</pqid></control><display><type>article</type><title>Somatic PIK3CA mutations in seven patients with PIK3CA‐related overgrowth spectrum</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><creator>Yeung, Kit San ; Ip, Janice Jing Kun ; Chow, Chin Pang ; Kuong, Evelyn Yue Ling ; Tam, Paul Kwong‐Hang ; Chan, Godfrey Chi‐Fung ; Chung, Brian Hon‐Yin</creator><creatorcontrib>Yeung, Kit San ; Ip, Janice Jing Kun ; Chow, Chin Pang ; Kuong, Evelyn Yue Ling ; Tam, Paul Kwong‐Hang ; Chan, Godfrey Chi‐Fung ; Chung, Brian Hon‐Yin</creatorcontrib><description>Somatic mutations in PIK3CA cause many overgrowth syndromes that have been recently coined the “PIK3CA‐Related Overgrowth Spectrum.” Here, we present seven molecularly confirmed patients with PIK3CA‐Related Overgrowth Spectrum, including patients with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal syndrome, Klippel–Trenaunay syndrome, lymphatic malformation and two with atypical phenotypes that cannot be classified into existing disease categories. The literature on PIK3CA‐Related Overgrowth Spectrum, suggests that PIK3CA c.1258T>C; p.(Cys420Arg), c.1624G>A; p.(Glu542Lys), c.1633G>A; p.(Glu545Lys), c.3140A>G; p.(His1047Arg), and c.3140A>T; p.(His1047Leu) can be identified in approximately 90% of patients without brain overgrowth. Therefore, droplet digital polymerase chain reaction targeting these mutation hotspots could be used as the first‐tier genetic test on patients with PIK3CA‐Related Overgrowth Spectrum who do not have signs of overgrowth in their central nervous system. © 2017 Wiley Periodicals, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.38105</identifier><identifier>PMID: 28328134</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>Adolescent ; Child ; Child, Preschool ; Class I Phosphatidylinositol 3-Kinases - genetics ; Female ; Gene Expression ; Genetic Association Studies ; Genetic Testing ; Humans ; Klippel-Trenaunay-Weber Syndrome - diagnosis ; Klippel-Trenaunay-Weber Syndrome - genetics ; Klippel-Trenaunay-Weber Syndrome - pathology ; Male ; Mutation ; Nevus - diagnosis ; Nevus - genetics ; Nevus - pathology ; Phenotype ; PIK3CA ; PIK3CA‐related overgrowth spectrum ; Polymerase Chain Reaction - methods ; Scoliosis - diagnosis ; Scoliosis - genetics ; Scoliosis - pathology ; somatic mosaicism ; Vascular Malformations - diagnosis ; Vascular Malformations - genetics ; Vascular Malformations - pathology</subject><ispartof>American journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.978-984</ispartof><rights>2017 Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3975-44181f39b6c429d08a5d970484642f9a5432bd9fbbb6f0856b6e05440b2f3adf3</citedby><cites>FETCH-LOGICAL-c3975-44181f39b6c429d08a5d970484642f9a5432bd9fbbb6f0856b6e05440b2f3adf3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fajmg.a.38105$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fajmg.a.38105$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28328134$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yeung, Kit San</creatorcontrib><creatorcontrib>Ip, Janice Jing Kun</creatorcontrib><creatorcontrib>Chow, Chin Pang</creatorcontrib><creatorcontrib>Kuong, Evelyn Yue Ling</creatorcontrib><creatorcontrib>Tam, Paul Kwong‐Hang</creatorcontrib><creatorcontrib>Chan, Godfrey Chi‐Fung</creatorcontrib><creatorcontrib>Chung, Brian Hon‐Yin</creatorcontrib><title>Somatic PIK3CA mutations in seven patients with PIK3CA‐related overgrowth spectrum</title><title>American journal of medical genetics. Part A</title><addtitle>Am J Med Genet A</addtitle><description>Somatic mutations in PIK3CA cause many overgrowth syndromes that have been recently coined the “PIK3CA‐Related Overgrowth Spectrum.” Here, we present seven molecularly confirmed patients with PIK3CA‐Related Overgrowth Spectrum, including patients with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal syndrome, Klippel–Trenaunay syndrome, lymphatic malformation and two with atypical phenotypes that cannot be classified into existing disease categories. The literature on PIK3CA‐Related Overgrowth Spectrum, suggests that PIK3CA c.1258T>C; p.(Cys420Arg), c.1624G>A; p.(Glu542Lys), c.1633G>A; p.(Glu545Lys), c.3140A>G; p.(His1047Arg), and c.3140A>T; p.(His1047Leu) can be identified in approximately 90% of patients without brain overgrowth. Therefore, droplet digital polymerase chain reaction targeting these mutation hotspots could be used as the first‐tier genetic test on patients with PIK3CA‐Related Overgrowth Spectrum who do not have signs of overgrowth in their central nervous system. © 2017 Wiley Periodicals, Inc.</description><subject>Adolescent</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Class I Phosphatidylinositol 3-Kinases - genetics</subject><subject>Female</subject><subject>Gene Expression</subject><subject>Genetic Association Studies</subject><subject>Genetic Testing</subject><subject>Humans</subject><subject>Klippel-Trenaunay-Weber Syndrome - diagnosis</subject><subject>Klippel-Trenaunay-Weber Syndrome - genetics</subject><subject>Klippel-Trenaunay-Weber Syndrome - pathology</subject><subject>Male</subject><subject>Mutation</subject><subject>Nevus - diagnosis</subject><subject>Nevus - genetics</subject><subject>Nevus - pathology</subject><subject>Phenotype</subject><subject>PIK3CA</subject><subject>PIK3CA‐related overgrowth spectrum</subject><subject>Polymerase Chain Reaction - methods</subject><subject>Scoliosis - diagnosis</subject><subject>Scoliosis - genetics</subject><subject>Scoliosis - pathology</subject><subject>somatic mosaicism</subject><subject>Vascular Malformations - diagnosis</subject><subject>Vascular Malformations - genetics</subject><subject>Vascular Malformations - pathology</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqN0btOwzAYBWALgWgpbMwoEgsDLb4m9hhVUApFIFFmy0mckio37KRVNx6BZ-RJcGnpwICYfPt0pN8HgFMEBwhCfKXmxWygBoQjyPZAFzGG-5QTsr_bY9YBR9bOISSQBf4h6GBOMEeEdsH0uSpUk8Xe0_ieDEOvaBt3rErrZaVn9UKXXu0udNlYb5k1r1v3-f5hdK4anXjVQpuZqZbuzdY6bkxbHIODVOVWn2zXHni5uZ4Ob_uTx9F4GE76MREB61OKOEqJiPyYYpFArlgiAkg59SlOhWKU4CgRaRRFfgo58yNfQ0YpjHBKVJKSHrjY5Namemu1bWSR2VjnuSp11VqJOOfCpwKh_1AIeQAD7Oj5LzqvWlO6QZwKREAQdv_bA5cbFZvKWqNTWZusUGYlEZTrYuS6GKnkdzGOn21D26jQyQ7_NOEA3YBlluvVn2EyvHsYhZvcL_KPmIU</recordid><startdate>201704</startdate><enddate>201704</enddate><creator>Yeung, Kit San</creator><creator>Ip, Janice Jing Kun</creator><creator>Chow, Chin Pang</creator><creator>Kuong, Evelyn Yue Ling</creator><creator>Tam, Paul Kwong‐Hang</creator><creator>Chan, Godfrey Chi‐Fung</creator><creator>Chung, Brian Hon‐Yin</creator><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201704</creationdate><title>Somatic PIK3CA mutations in seven patients with PIK3CA‐related overgrowth spectrum</title><author>Yeung, Kit San ; Ip, Janice Jing Kun ; Chow, Chin Pang ; Kuong, Evelyn Yue Ling ; Tam, Paul Kwong‐Hang ; Chan, Godfrey Chi‐Fung ; Chung, Brian Hon‐Yin</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3975-44181f39b6c429d08a5d970484642f9a5432bd9fbbb6f0856b6e05440b2f3adf3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Adolescent</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Class I Phosphatidylinositol 3-Kinases - genetics</topic><topic>Female</topic><topic>Gene Expression</topic><topic>Genetic Association Studies</topic><topic>Genetic Testing</topic><topic>Humans</topic><topic>Klippel-Trenaunay-Weber Syndrome - diagnosis</topic><topic>Klippel-Trenaunay-Weber Syndrome - genetics</topic><topic>Klippel-Trenaunay-Weber Syndrome - pathology</topic><topic>Male</topic><topic>Mutation</topic><topic>Nevus - diagnosis</topic><topic>Nevus - genetics</topic><topic>Nevus - pathology</topic><topic>Phenotype</topic><topic>PIK3CA</topic><topic>PIK3CA‐related overgrowth spectrum</topic><topic>Polymerase Chain Reaction - methods</topic><topic>Scoliosis - diagnosis</topic><topic>Scoliosis - genetics</topic><topic>Scoliosis - pathology</topic><topic>somatic mosaicism</topic><topic>Vascular Malformations - diagnosis</topic><topic>Vascular Malformations - genetics</topic><topic>Vascular Malformations - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yeung, Kit San</creatorcontrib><creatorcontrib>Ip, Janice Jing Kun</creatorcontrib><creatorcontrib>Chow, Chin Pang</creatorcontrib><creatorcontrib>Kuong, Evelyn Yue Ling</creatorcontrib><creatorcontrib>Tam, Paul Kwong‐Hang</creatorcontrib><creatorcontrib>Chan, Godfrey Chi‐Fung</creatorcontrib><creatorcontrib>Chung, Brian Hon‐Yin</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yeung, Kit San</au><au>Ip, Janice Jing Kun</au><au>Chow, Chin Pang</au><au>Kuong, Evelyn Yue Ling</au><au>Tam, Paul Kwong‐Hang</au><au>Chan, Godfrey Chi‐Fung</au><au>Chung, Brian Hon‐Yin</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Somatic PIK3CA mutations in seven patients with PIK3CA‐related overgrowth spectrum</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2017-04</date><risdate>2017</risdate><volume>173</volume><issue>4</issue><spage>978</spage><epage>984</epage><pages>978-984</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>Somatic mutations in PIK3CA cause many overgrowth syndromes that have been recently coined the “PIK3CA‐Related Overgrowth Spectrum.” Here, we present seven molecularly confirmed patients with PIK3CA‐Related Overgrowth Spectrum, including patients with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal syndrome, Klippel–Trenaunay syndrome, lymphatic malformation and two with atypical phenotypes that cannot be classified into existing disease categories. The literature on PIK3CA‐Related Overgrowth Spectrum, suggests that PIK3CA c.1258T>C; p.(Cys420Arg), c.1624G>A; p.(Glu542Lys), c.1633G>A; p.(Glu545Lys), c.3140A>G; p.(His1047Arg), and c.3140A>T; p.(His1047Leu) can be identified in approximately 90% of patients without brain overgrowth. Therefore, droplet digital polymerase chain reaction targeting these mutation hotspots could be used as the first‐tier genetic test on patients with PIK3CA‐Related Overgrowth Spectrum who do not have signs of overgrowth in their central nervous system. © 2017 Wiley Periodicals, Inc.</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>28328134</pmid><doi>10.1002/ajmg.a.38105</doi><tpages>7</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1552-4825 |
| ispartof | American journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.978-984 |
| issn | 1552-4825 1552-4833 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1888964911 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Adolescent Child Child, Preschool Class I Phosphatidylinositol 3-Kinases - genetics Female Gene Expression Genetic Association Studies Genetic Testing Humans Klippel-Trenaunay-Weber Syndrome - diagnosis Klippel-Trenaunay-Weber Syndrome - genetics Klippel-Trenaunay-Weber Syndrome - pathology Male Mutation Nevus - diagnosis Nevus - genetics Nevus - pathology Phenotype PIK3CA PIK3CA‐related overgrowth spectrum Polymerase Chain Reaction - methods Scoliosis - diagnosis Scoliosis - genetics Scoliosis - pathology somatic mosaicism Vascular Malformations - diagnosis Vascular Malformations - genetics Vascular Malformations - pathology |
| title | Somatic PIK3CA mutations in seven patients with PIK3CA‐related overgrowth spectrum |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-02T02%3A00%3A28IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Somatic%20PIK3CA%20mutations%20in%20seven%20patients%20with%20PIK3CA%E2%80%90related%20overgrowth%20spectrum&rft.jtitle=American%20journal%20of%20medical%20genetics.%20Part%20A&rft.au=Yeung,%20Kit%20San&rft.date=2017-04&rft.volume=173&rft.issue=4&rft.spage=978&rft.epage=984&rft.pages=978-984&rft.issn=1552-4825&rft.eissn=1552-4833&rft_id=info:doi/10.1002/ajmg.a.38105&rft_dat=%3Cproquest_cross%3E1880087072%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1879731248&rft_id=info:pmid/28328134&rfr_iscdi=true |