Peutz-Jeghers syndrome: four novel inactivating germline mutations in the STK11 gene. Mutations in brief no. 227. Online
The diagnosis of Peutz-Jeghers syndrome is based on the occurrence of hamartomatous gastrointestinal polyps and perioral pigment spots. In view of the development of hamartomatous polyps in several syndromes and the variability of pigment spots in Peutz-Jeghers patients, identification of affected i...
Gespeichert in:
| Veröffentlicht in: | Human mutation 1999, Vol.13 (3), p.257-258 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 258 |
|---|---|
| container_issue | 3 |
| container_start_page | 257 |
| container_title | Human mutation |
| container_volume | 13 |
| creator | Kruse, R Uhlhaas, S Lamberti, C Keller, K M Jackisch, C Steinhard, J Knöpfle, G Loff, S Back, W Stolte, M Jungck, M Propping, P Friedl, W Jenne, D E |
| description | The diagnosis of Peutz-Jeghers syndrome is based on the occurrence of hamartomatous gastrointestinal polyps and perioral pigment spots. In view of the development of hamartomatous polyps in several syndromes and the variability of pigment spots in Peutz-Jeghers patients, identification of affected individuals is difficult. Recently, germline mutations in the STK11 gene have been reported as a molecular cause of Peutz-Jeghers syndrome. We present four novel inactivating mutations identified by direct sequencing of all 9 exons of the STK11 gene in 4 patients suggestive of Peutz-Jeghers syndrome: three frameshift mutations (125-137del; 474-480del; 516-517insT) and one nonsense mutation (Q220X). Our data obtained in these patients and in those reported previously emphasize the diagnostic value of histological discrimination between different types of hamartomatous polyps and of molecular analysis, particularly in cases with no family history of the disease. |
| doi_str_mv | 10.1002/(SICI)1098-1004(1999)13:3<257::AID-HUMU15>3.0.CO;2-A |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_proquest_miscellaneous_69639812</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>69639812</sourcerecordid><originalsourceid>FETCH-LOGICAL-p122t-91919efac85abaabe4b8215b267a0333bb1df0dab66ac84ce50cb6c4cf6039eb3</originalsourceid><addsrcrecordid>eNpNkE1PwkAQhvegEUT_gtmTgUPrfnTbLhoTgh-gEEyAM9ktU6hpt9htifjrXSMmZg6Tmeed5zAI3VHiU0LYTXc-Ho57lMjYc3PQpVLKHuV9fsdE1O8Pxg_eaDldUnHPfeIPZ7fMG5ygNiVCelEkgxY6t_adEBILwc9Qy0kkCWLRRp9v0NRf3gtstlBZbA9mXZUF9HFaNhU25R5ynBmV1Nle1ZnZ4A1URZ4ZwEVTu01prOO43gKeL14pddyAj6f_oa4ySJ3Lx4xFPp6Zn_sLdJqq3MLlsXfQ8ulxMRx5k9nzeDiYeDvKWO1J6gpSlcRCaaU0BDpmVGgWRopwzrWm65SslQ5DlwkSECTRYRIkaUi4BM076PrXu6vKjwZsvSoym0CeKwNlY1ehDLmMKXPBq2Ow0QWsV7sqK1R1WP39in8DemVzHw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>69639812</pqid></control><display><type>article</type><title>Peutz-Jeghers syndrome: four novel inactivating germline mutations in the STK11 gene. Mutations in brief no. 227. Online</title><source>MEDLINE</source><source>Wiley Online Library All Journals</source><creator>Kruse, R ; Uhlhaas, S ; Lamberti, C ; Keller, K M ; Jackisch, C ; Steinhard, J ; Knöpfle, G ; Loff, S ; Back, W ; Stolte, M ; Jungck, M ; Propping, P ; Friedl, W ; Jenne, D E</creator><creatorcontrib>Kruse, R ; Uhlhaas, S ; Lamberti, C ; Keller, K M ; Jackisch, C ; Steinhard, J ; Knöpfle, G ; Loff, S ; Back, W ; Stolte, M ; Jungck, M ; Propping, P ; Friedl, W ; Jenne, D E</creatorcontrib><description>The diagnosis of Peutz-Jeghers syndrome is based on the occurrence of hamartomatous gastrointestinal polyps and perioral pigment spots. In view of the development of hamartomatous polyps in several syndromes and the variability of pigment spots in Peutz-Jeghers patients, identification of affected individuals is difficult. Recently, germline mutations in the STK11 gene have been reported as a molecular cause of Peutz-Jeghers syndrome. We present four novel inactivating mutations identified by direct sequencing of all 9 exons of the STK11 gene in 4 patients suggestive of Peutz-Jeghers syndrome: three frameshift mutations (125-137del; 474-480del; 516-517insT) and one nonsense mutation (Q220X). Our data obtained in these patients and in those reported previously emphasize the diagnostic value of histological discrimination between different types of hamartomatous polyps and of molecular analysis, particularly in cases with no family history of the disease.</description><identifier>ISSN: 1059-7794</identifier><identifier>DOI: 10.1002/(SICI)1098-1004(1999)13:3<257::AID-HUMU15>3.0.CO;2-A</identifier><identifier>PMID: 10090485</identifier><language>eng</language><publisher>United States</publisher><subject>Codon, Nonsense ; DNA Mutational Analysis ; Frameshift Mutation ; Germ-Line Mutation ; Humans ; Peutz-Jeghers Syndrome - diagnosis ; Peutz-Jeghers Syndrome - genetics ; Protein-Serine-Threonine Kinases - genetics</subject><ispartof>Human mutation, 1999, Vol.13 (3), p.257-258</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,4024,27923,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10090485$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kruse, R</creatorcontrib><creatorcontrib>Uhlhaas, S</creatorcontrib><creatorcontrib>Lamberti, C</creatorcontrib><creatorcontrib>Keller, K M</creatorcontrib><creatorcontrib>Jackisch, C</creatorcontrib><creatorcontrib>Steinhard, J</creatorcontrib><creatorcontrib>Knöpfle, G</creatorcontrib><creatorcontrib>Loff, S</creatorcontrib><creatorcontrib>Back, W</creatorcontrib><creatorcontrib>Stolte, M</creatorcontrib><creatorcontrib>Jungck, M</creatorcontrib><creatorcontrib>Propping, P</creatorcontrib><creatorcontrib>Friedl, W</creatorcontrib><creatorcontrib>Jenne, D E</creatorcontrib><title>Peutz-Jeghers syndrome: four novel inactivating germline mutations in the STK11 gene. Mutations in brief no. 227. Online</title><title>Human mutation</title><addtitle>Hum Mutat</addtitle><description>The diagnosis of Peutz-Jeghers syndrome is based on the occurrence of hamartomatous gastrointestinal polyps and perioral pigment spots. In view of the development of hamartomatous polyps in several syndromes and the variability of pigment spots in Peutz-Jeghers patients, identification of affected individuals is difficult. Recently, germline mutations in the STK11 gene have been reported as a molecular cause of Peutz-Jeghers syndrome. We present four novel inactivating mutations identified by direct sequencing of all 9 exons of the STK11 gene in 4 patients suggestive of Peutz-Jeghers syndrome: three frameshift mutations (125-137del; 474-480del; 516-517insT) and one nonsense mutation (Q220X). Our data obtained in these patients and in those reported previously emphasize the diagnostic value of histological discrimination between different types of hamartomatous polyps and of molecular analysis, particularly in cases with no family history of the disease.</description><subject>Codon, Nonsense</subject><subject>DNA Mutational Analysis</subject><subject>Frameshift Mutation</subject><subject>Germ-Line Mutation</subject><subject>Humans</subject><subject>Peutz-Jeghers Syndrome - diagnosis</subject><subject>Peutz-Jeghers Syndrome - genetics</subject><subject>Protein-Serine-Threonine Kinases - genetics</subject><issn>1059-7794</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpNkE1PwkAQhvegEUT_gtmTgUPrfnTbLhoTgh-gEEyAM9ktU6hpt9htifjrXSMmZg6Tmeed5zAI3VHiU0LYTXc-Ho57lMjYc3PQpVLKHuV9fsdE1O8Pxg_eaDldUnHPfeIPZ7fMG5ygNiVCelEkgxY6t_adEBILwc9Qy0kkCWLRRp9v0NRf3gtstlBZbA9mXZUF9HFaNhU25R5ynBmV1Nle1ZnZ4A1URZ4ZwEVTu01prOO43gKeL14pddyAj6f_oa4ySJ3Lx4xFPp6Zn_sLdJqq3MLlsXfQ8ulxMRx5k9nzeDiYeDvKWO1J6gpSlcRCaaU0BDpmVGgWRopwzrWm65SslQ5DlwkSECTRYRIkaUi4BM076PrXu6vKjwZsvSoym0CeKwNlY1ehDLmMKXPBq2Ow0QWsV7sqK1R1WP39in8DemVzHw</recordid><startdate>1999</startdate><enddate>1999</enddate><creator>Kruse, R</creator><creator>Uhlhaas, S</creator><creator>Lamberti, C</creator><creator>Keller, K M</creator><creator>Jackisch, C</creator><creator>Steinhard, J</creator><creator>Knöpfle, G</creator><creator>Loff, S</creator><creator>Back, W</creator><creator>Stolte, M</creator><creator>Jungck, M</creator><creator>Propping, P</creator><creator>Friedl, W</creator><creator>Jenne, D E</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>1999</creationdate><title>Peutz-Jeghers syndrome: four novel inactivating germline mutations in the STK11 gene. Mutations in brief no. 227. Online</title><author>Kruse, R ; Uhlhaas, S ; Lamberti, C ; Keller, K M ; Jackisch, C ; Steinhard, J ; Knöpfle, G ; Loff, S ; Back, W ; Stolte, M ; Jungck, M ; Propping, P ; Friedl, W ; Jenne, D E</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p122t-91919efac85abaabe4b8215b267a0333bb1df0dab66ac84ce50cb6c4cf6039eb3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Codon, Nonsense</topic><topic>DNA Mutational Analysis</topic><topic>Frameshift Mutation</topic><topic>Germ-Line Mutation</topic><topic>Humans</topic><topic>Peutz-Jeghers Syndrome - diagnosis</topic><topic>Peutz-Jeghers Syndrome - genetics</topic><topic>Protein-Serine-Threonine Kinases - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kruse, R</creatorcontrib><creatorcontrib>Uhlhaas, S</creatorcontrib><creatorcontrib>Lamberti, C</creatorcontrib><creatorcontrib>Keller, K M</creatorcontrib><creatorcontrib>Jackisch, C</creatorcontrib><creatorcontrib>Steinhard, J</creatorcontrib><creatorcontrib>Knöpfle, G</creatorcontrib><creatorcontrib>Loff, S</creatorcontrib><creatorcontrib>Back, W</creatorcontrib><creatorcontrib>Stolte, M</creatorcontrib><creatorcontrib>Jungck, M</creatorcontrib><creatorcontrib>Propping, P</creatorcontrib><creatorcontrib>Friedl, W</creatorcontrib><creatorcontrib>Jenne, D E</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Human mutation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kruse, R</au><au>Uhlhaas, S</au><au>Lamberti, C</au><au>Keller, K M</au><au>Jackisch, C</au><au>Steinhard, J</au><au>Knöpfle, G</au><au>Loff, S</au><au>Back, W</au><au>Stolte, M</au><au>Jungck, M</au><au>Propping, P</au><au>Friedl, W</au><au>Jenne, D E</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Peutz-Jeghers syndrome: four novel inactivating germline mutations in the STK11 gene. Mutations in brief no. 227. Online</atitle><jtitle>Human mutation</jtitle><addtitle>Hum Mutat</addtitle><date>1999</date><risdate>1999</risdate><volume>13</volume><issue>3</issue><spage>257</spage><epage>258</epage><pages>257-258</pages><issn>1059-7794</issn><abstract>The diagnosis of Peutz-Jeghers syndrome is based on the occurrence of hamartomatous gastrointestinal polyps and perioral pigment spots. In view of the development of hamartomatous polyps in several syndromes and the variability of pigment spots in Peutz-Jeghers patients, identification of affected individuals is difficult. Recently, germline mutations in the STK11 gene have been reported as a molecular cause of Peutz-Jeghers syndrome. We present four novel inactivating mutations identified by direct sequencing of all 9 exons of the STK11 gene in 4 patients suggestive of Peutz-Jeghers syndrome: three frameshift mutations (125-137del; 474-480del; 516-517insT) and one nonsense mutation (Q220X). Our data obtained in these patients and in those reported previously emphasize the diagnostic value of histological discrimination between different types of hamartomatous polyps and of molecular analysis, particularly in cases with no family history of the disease.</abstract><cop>United States</cop><pmid>10090485</pmid><doi>10.1002/(SICI)1098-1004(1999)13:3<257::AID-HUMU15>3.0.CO;2-A</doi><tpages>2</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1059-7794 |
| ispartof | Human mutation, 1999, Vol.13 (3), p.257-258 |
| issn | 1059-7794 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_69639812 |
| source | MEDLINE; Wiley Online Library All Journals |
| subjects | Codon, Nonsense DNA Mutational Analysis Frameshift Mutation Germ-Line Mutation Humans Peutz-Jeghers Syndrome - diagnosis Peutz-Jeghers Syndrome - genetics Protein-Serine-Threonine Kinases - genetics |
| title | Peutz-Jeghers syndrome: four novel inactivating germline mutations in the STK11 gene. Mutations in brief no. 227. Online |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-28T17%3A56%3A42IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Peutz-Jeghers%20syndrome:%20four%20novel%20inactivating%20germline%20mutations%20in%20the%20STK11%20gene.%20Mutations%20in%20brief%20no.%20227.%20Online&rft.jtitle=Human%20mutation&rft.au=Kruse,%20R&rft.date=1999&rft.volume=13&rft.issue=3&rft.spage=257&rft.epage=258&rft.pages=257-258&rft.issn=1059-7794&rft_id=info:doi/10.1002/(SICI)1098-1004(1999)13:3%3C257::AID-HUMU15%3E3.0.CO;2-A&rft_dat=%3Cproquest_pubme%3E69639812%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=69639812&rft_id=info:pmid/10090485&rfr_iscdi=true |