Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome
Summary Olmsted syndrome (OS) is a rare genodermatosis that is often difficult to diagnose because of clinical overlap with other disorders and its uncertain mode of inheritance. The molecular basis of OS was investigated in an Indian boy using comparative exome sequencing and Sanger sequencing data...
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| Veröffentlicht in: | British journal of dermatology (1951) 2012-08, Vol.167 (2), p.440-442 |
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| container_end_page | 442 |
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| container_issue | 2 |
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| container_title | British journal of dermatology (1951) |
| container_volume | 167 |
| creator | Lai‐Cheong, J.E. Sethuraman, G. Ramam, M. Stone, K. Simpson, M.A. McGrath, J.A. |
| description | Summary
Olmsted syndrome (OS) is a rare genodermatosis that is often difficult to diagnose because of clinical overlap with other disorders and its uncertain mode of inheritance. The molecular basis of OS was investigated in an Indian boy using comparative exome sequencing and Sanger sequencing data. Sequencing identified a G‐to‐A transition at position c.573 in the TRPV3 gene, producing the missense mutation p.Gly573Ser in the proband. This mutation was not identified in the mother. This study supports the recent finding of TRPV3 as the gene implicated in OS and suggests that the mutation p.Gly573Ser may be a recurrent abnormality in this genodermatosis. |
| doi_str_mv | 10.1111/j.1365-2133.2012.11115.x |
| format | Article |
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Olmsted syndrome (OS) is a rare genodermatosis that is often difficult to diagnose because of clinical overlap with other disorders and its uncertain mode of inheritance. The molecular basis of OS was investigated in an Indian boy using comparative exome sequencing and Sanger sequencing data. Sequencing identified a G‐to‐A transition at position c.573 in the TRPV3 gene, producing the missense mutation p.Gly573Ser in the proband. This mutation was not identified in the mother. This study supports the recent finding of TRPV3 as the gene implicated in OS and suggests that the mutation p.Gly573Ser may be a recurrent abnormality in this genodermatosis.</description><identifier>ISSN: 0007-0963</identifier><identifier>EISSN: 1365-2133</identifier><identifier>DOI: 10.1111/j.1365-2133.2012.11115.x</identifier><identifier>PMID: 22835024</identifier><identifier>CODEN: BJDEAZ</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Biological and medical sciences ; Child ; Dermatology ; General aspects ; Heterozygote ; Humans ; Keratoderma, Palmoplantar - genetics ; Male ; Medical sciences ; Mutation, Missense - genetics ; Pedigree ; Recurrence ; Syndrome ; TRPV Cation Channels - genetics</subject><ispartof>British journal of dermatology (1951), 2012-08, Vol.167 (2), p.440-442</ispartof><rights>2012 The Authors. BJD © 2012 British Association of Dermatologists</rights><rights>2015 INIST-CNRS</rights><rights>2012 The Authors. BJD © 2012 British Association of Dermatologists.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3845-cc7cecc27e07fee8019007ad4e331c0b372b0012cf878ffd27b30c2e8a8857f53</citedby></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.1365-2133.2012.11115.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1365-2133.2012.11115.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,781,785,1418,27928,27929,45578,45579</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=26225114$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22835024$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lai‐Cheong, J.E.</creatorcontrib><creatorcontrib>Sethuraman, G.</creatorcontrib><creatorcontrib>Ramam, M.</creatorcontrib><creatorcontrib>Stone, K.</creatorcontrib><creatorcontrib>Simpson, M.A.</creatorcontrib><creatorcontrib>McGrath, J.A.</creatorcontrib><title>Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome</title><title>British journal of dermatology (1951)</title><addtitle>Br J Dermatol</addtitle><description>Summary
Olmsted syndrome (OS) is a rare genodermatosis that is often difficult to diagnose because of clinical overlap with other disorders and its uncertain mode of inheritance. The molecular basis of OS was investigated in an Indian boy using comparative exome sequencing and Sanger sequencing data. Sequencing identified a G‐to‐A transition at position c.573 in the TRPV3 gene, producing the missense mutation p.Gly573Ser in the proband. This mutation was not identified in the mother. This study supports the recent finding of TRPV3 as the gene implicated in OS and suggests that the mutation p.Gly573Ser may be a recurrent abnormality in this genodermatosis.</description><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Dermatology</subject><subject>General aspects</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Keratoderma, Palmoplantar - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Mutation, Missense - genetics</subject><subject>Pedigree</subject><subject>Recurrence</subject><subject>Syndrome</subject><subject>TRPV Cation Channels - genetics</subject><issn>0007-0963</issn><issn>1365-2133</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkUFv1DAQhS1ERZelfwH5gsShScf2eu29IEGBUlSpqLRcLceZdL1KnK2dqBt-Pcl2KUd8GevNpxm9eYRQBjkb39kmZ2IpM86EyDkwvldlvntBZs-Nl2QGACqD1VIck9cpbQCYAAmvyDHnWkjgixnZ3aDrY8TQ0TV2GNvfw33bJ9r4lDAkpE3f2c634ZRu84t6kEr8xHhKfaDdGuntzY9fgt5jwEmxgV6G0o-laAf66Ls1Tds22tI7el03qcOSpiGUsW3wDTmqbJ3w5FDn5O7rl9vzb9nV9cXl-cerzAm9kJlzyqFzXCGoClEDW42mbLlAIZiDQihejL64q7TSVVVyVQhwHLXVWqpKijl5_zR3G9uHHlNnRmsO69oGHI0apqSQXGsG_0dBjLtXi_G6c_L2gPZFg6XZRt_YOJi_hx2BdwfAJmfrKtrgfPrHLTmXjE3chyfu0dc4PPcZmClSszFTnmbK00xB71VpdubT98_7r_gDRDOamA</recordid><startdate>201208</startdate><enddate>201208</enddate><creator>Lai‐Cheong, J.E.</creator><creator>Sethuraman, G.</creator><creator>Ramam, M.</creator><creator>Stone, K.</creator><creator>Simpson, M.A.</creator><creator>McGrath, J.A.</creator><general>Blackwell Publishing Ltd</general><general>Wiley-Blackwell</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>201208</creationdate><title>Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome</title><author>Lai‐Cheong, J.E. ; Sethuraman, G. ; Ramam, M. ; Stone, K. ; Simpson, M.A. ; McGrath, J.A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3845-cc7cecc27e07fee8019007ad4e331c0b372b0012cf878ffd27b30c2e8a8857f53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Dermatology</topic><topic>General aspects</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Keratoderma, Palmoplantar - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Mutation, Missense - genetics</topic><topic>Pedigree</topic><topic>Recurrence</topic><topic>Syndrome</topic><topic>TRPV Cation Channels - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lai‐Cheong, J.E.</creatorcontrib><creatorcontrib>Sethuraman, G.</creatorcontrib><creatorcontrib>Ramam, M.</creatorcontrib><creatorcontrib>Stone, K.</creatorcontrib><creatorcontrib>Simpson, M.A.</creatorcontrib><creatorcontrib>McGrath, J.A.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>British journal of dermatology (1951)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lai‐Cheong, J.E.</au><au>Sethuraman, G.</au><au>Ramam, M.</au><au>Stone, K.</au><au>Simpson, M.A.</au><au>McGrath, J.A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome</atitle><jtitle>British journal of dermatology (1951)</jtitle><addtitle>Br J Dermatol</addtitle><date>2012-08</date><risdate>2012</risdate><volume>167</volume><issue>2</issue><spage>440</spage><epage>442</epage><pages>440-442</pages><issn>0007-0963</issn><eissn>1365-2133</eissn><coden>BJDEAZ</coden><abstract>Summary
Olmsted syndrome (OS) is a rare genodermatosis that is often difficult to diagnose because of clinical overlap with other disorders and its uncertain mode of inheritance. The molecular basis of OS was investigated in an Indian boy using comparative exome sequencing and Sanger sequencing data. Sequencing identified a G‐to‐A transition at position c.573 in the TRPV3 gene, producing the missense mutation p.Gly573Ser in the proband. This mutation was not identified in the mother. This study supports the recent finding of TRPV3 as the gene implicated in OS and suggests that the mutation p.Gly573Ser may be a recurrent abnormality in this genodermatosis.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>22835024</pmid><doi>10.1111/j.1365-2133.2012.11115.x</doi><tpages>3</tpages></addata></record> |
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| ispartof | British journal of dermatology (1951), 2012-08, Vol.167 (2), p.440-442 |
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| source | MEDLINE; Access via Wiley Online Library; Oxford University Press Journals All Titles (1996-Current) |
| subjects | Biological and medical sciences Child Dermatology General aspects Heterozygote Humans Keratoderma, Palmoplantar - genetics Male Medical sciences Mutation, Missense - genetics Pedigree Recurrence Syndrome TRPV Cation Channels - genetics |
| title | Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome |
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