CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes
Brooke–Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT), originally described as distinct inherited disorders, are characterized by a variety of skin appendage neoplasms. Mutations in the CYLD gene are found in individuals with these syndromes. We...
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| Veröffentlicht in: | Clinical genetics 2006-09, Vol.70 (3), p.246-249 |
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| creator | Young, AL Kellermayer, R Szigeti, R Tészás, A Azmi, S Celebi, JT |
| description | Brooke–Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT), originally described as distinct inherited disorders, are characterized by a variety of skin appendage neoplasms. Mutations in the CYLD gene are found in individuals with these syndromes. We describe a single family with affected members exhibiting either the FC or the MFT phenotypes associated with a mutation in the CYLD gene. These findings support the notion that BSS, FC, and MFT represent phenotypic variation of a single defect. Of interest, one of the affected individuals described in this report exhibits a severe phenotype illustrating the morbidity of the disorder. |
| doi_str_mv | 10.1111/j.1399-0004.2006.00667.x |
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Mutations in the CYLD gene are found in individuals with these syndromes. We describe a single family with affected members exhibiting either the FC or the MFT phenotypes associated with a mutation in the CYLD gene. These findings support the notion that BSS, FC, and MFT represent phenotypic variation of a single defect. Of interest, one of the affected individuals described in this report exhibits a severe phenotype illustrating the morbidity of the disorder.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1111/j.1399-0004.2006.00667.x</identifier><identifier>PMID: 16922728</identifier><identifier>CODEN: CLGNAY</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Aged ; Biological and medical sciences ; Carcinoma, Skin Appendage - genetics ; Carcinoma, Skin Appendage - pathology ; Dermatology ; Deubiquitinating Enzyme CYLD ; Female ; General aspects. Genetic counseling ; genetic ; genodermatosis ; Humans ; Male ; Medical genetics ; Medical sciences ; Middle Aged ; Mutation ; neoplasm ; Pedigree ; Phenotype ; skin ; Skin Neoplasms - genetics ; Skin Neoplasms - pathology ; Syndrome ; Tumor Suppressor Proteins - genetics ; Tumors of the skin and soft tissue. Premalignant lesions</subject><ispartof>Clinical genetics, 2006-09, Vol.70 (3), p.246-249</ispartof><rights>2006 Blackwell Munksgaard</rights><rights>2006 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5007-931794b4bb56679bac045e9aa1dd9e20b67bc214bea813a7b92cee7e5ae549623</citedby><cites>FETCH-LOGICAL-c5007-931794b4bb56679bac045e9aa1dd9e20b67bc214bea813a7b92cee7e5ae549623</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1399-0004.2006.00667.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1399-0004.2006.00667.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27903,27904,45553,45554</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18016402$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16922728$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Young, AL</creatorcontrib><creatorcontrib>Kellermayer, R</creatorcontrib><creatorcontrib>Szigeti, R</creatorcontrib><creatorcontrib>Tészás, A</creatorcontrib><creatorcontrib>Azmi, S</creatorcontrib><creatorcontrib>Celebi, JT</creatorcontrib><title>CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes</title><title>Clinical genetics</title><addtitle>Clin Genet</addtitle><description>Brooke–Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT), originally described as distinct inherited disorders, are characterized by a variety of skin appendage neoplasms. Mutations in the CYLD gene are found in individuals with these syndromes. We describe a single family with affected members exhibiting either the FC or the MFT phenotypes associated with a mutation in the CYLD gene. These findings support the notion that BSS, FC, and MFT represent phenotypic variation of a single defect. Of interest, one of the affected individuals described in this report exhibits a severe phenotype illustrating the morbidity of the disorder.</description><subject>Aged</subject><subject>Biological and medical sciences</subject><subject>Carcinoma, Skin Appendage - genetics</subject><subject>Carcinoma, Skin Appendage - pathology</subject><subject>Dermatology</subject><subject>Deubiquitinating Enzyme CYLD</subject><subject>Female</subject><subject>General aspects. Genetic counseling</subject><subject>genetic</subject><subject>genodermatosis</subject><subject>Humans</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>neoplasm</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>skin</subject><subject>Skin Neoplasms - genetics</subject><subject>Skin Neoplasms - pathology</subject><subject>Syndrome</subject><subject>Tumor Suppressor Proteins - genetics</subject><subject>Tumors of the skin and soft tissue. Premalignant lesions</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkE1v1DAQhi0EokvhL6Bc4NQEOx92LHGhabugLuUACMHFcpxZ6q0TB9tRd_89TnfVvdbSaDya5x2PX4QSgjMSz4dNRgrOU4xxmeUY0ywGZdn2GVo8Np6jRUw85YQWJ-iV95tYFqziL9EJoTzPWV4vUGh-ry6SfgoyaDv4ZBo6cEZDcu6svYP0-6jhrwF3lqxlr42WJlE7o4fO2V4G67U_S-TQxQkm6NHAEQtOq1sLow63YHSkE797kIF_jV6spfHw5pBP0c-ryx_N53T1bfml-bRKVYUxS3lBGC_bsm2r-DveSoXLCriUpOs45LilrFU5KVuQNSkka3muABhUEqqS07w4Re_3c0dn_03gg-i1V2CMHMBOXtCaUU5IFcF6DypnvXewFqPTvXQ7QbCYHRcbMRsrZmPF7Lh4cFxso_Tt4Y2p7aE7Cg8WR-DdAZBeSbN2clDaH7kaE1riedmPe-5eG9g9eQHRLC_jJcrTvVz7ANtHuXR3InZZJX7dLEXRfD2_vvhzI2jxH8O3rYk</recordid><startdate>200609</startdate><enddate>200609</enddate><creator>Young, AL</creator><creator>Kellermayer, R</creator><creator>Szigeti, R</creator><creator>Tészás, A</creator><creator>Azmi, S</creator><creator>Celebi, JT</creator><general>Blackwell Publishing Ltd</general><general>Blackwell</general><scope>BSCLL</scope><scope>IQODW</scope><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>7X8</scope></search><sort><creationdate>200609</creationdate><title>CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes</title><author>Young, AL ; Kellermayer, R ; Szigeti, R ; Tészás, A ; Azmi, S ; Celebi, JT</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5007-931794b4bb56679bac045e9aa1dd9e20b67bc214bea813a7b92cee7e5ae549623</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Aged</topic><topic>Biological and medical sciences</topic><topic>Carcinoma, Skin Appendage - genetics</topic><topic>Carcinoma, Skin Appendage - pathology</topic><topic>Dermatology</topic><topic>Deubiquitinating Enzyme CYLD</topic><topic>Female</topic><topic>General aspects. Genetic counseling</topic><topic>genetic</topic><topic>genodermatosis</topic><topic>Humans</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>neoplasm</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>skin</topic><topic>Skin Neoplasms - genetics</topic><topic>Skin Neoplasms - pathology</topic><topic>Syndrome</topic><topic>Tumor Suppressor Proteins - genetics</topic><topic>Tumors of the skin and soft tissue. Premalignant lesions</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Young, AL</creatorcontrib><creatorcontrib>Kellermayer, R</creatorcontrib><creatorcontrib>Szigeti, R</creatorcontrib><creatorcontrib>Tészás, A</creatorcontrib><creatorcontrib>Azmi, S</creatorcontrib><creatorcontrib>Celebi, JT</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Young, AL</au><au>Kellermayer, R</au><au>Szigeti, R</au><au>Tészás, A</au><au>Azmi, S</au><au>Celebi, JT</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>2006-09</date><risdate>2006</risdate><volume>70</volume><issue>3</issue><spage>246</spage><epage>249</epage><pages>246-249</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><coden>CLGNAY</coden><abstract>Brooke–Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT), originally described as distinct inherited disorders, are characterized by a variety of skin appendage neoplasms. Mutations in the CYLD gene are found in individuals with these syndromes. We describe a single family with affected members exhibiting either the FC or the MFT phenotypes associated with a mutation in the CYLD gene. These findings support the notion that BSS, FC, and MFT represent phenotypic variation of a single defect. Of interest, one of the affected individuals described in this report exhibits a severe phenotype illustrating the morbidity of the disorder.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>16922728</pmid><doi>10.1111/j.1399-0004.2006.00667.x</doi><tpages>4</tpages></addata></record> |
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| subjects | Aged Biological and medical sciences Carcinoma, Skin Appendage - genetics Carcinoma, Skin Appendage - pathology Dermatology Deubiquitinating Enzyme CYLD Female General aspects. Genetic counseling genetic genodermatosis Humans Male Medical genetics Medical sciences Middle Aged Mutation neoplasm Pedigree Phenotype skin Skin Neoplasms - genetics Skin Neoplasms - pathology Syndrome Tumor Suppressor Proteins - genetics Tumors of the skin and soft tissue. Premalignant lesions |
| title | CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes |
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