A Novel Connexin 30 Mutation in Clouston Syndrome
Clouston syndrome (hidrotic ectodermal dysplasia) is an autosomal dominant ectodermal dysplasia characterized by alopecia, palmoplantar hyperkeratosis, and nail dystrophy. Recently, mutations in the GJB6 gene encoding the gap junction protein connexin 30 have been shown to cause this disorder. To da...
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| Veröffentlicht in: | Journal of investigative dermatology 2002-03, Vol.118 (3), p.530-532 |
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| creator | Smith, Frances J.D. Irwin McLean, W.H. Morley, Susan M. |
| description | Clouston syndrome (hidrotic ectodermal dysplasia) is an autosomal dominant ectodermal dysplasia characterized by alopecia, palmoplantar hyperkeratosis, and nail dystrophy. Recently, mutations in the GJB6 gene encoding the gap junction protein connexin 30 have been shown to cause this disorder. To date, all mutations have involved two codons: G11R and A88V. Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome. The mutation was detected in genomic DNA, confirmed in reverse transcription polymerase chain reaction products, and was excluded from 100 ethnically matched control individuals by restriction enzyme analysis. |
| doi_str_mv | 10.1046/j.0022-202x.2001.01689.x |
| format | Article |
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Recently, mutations in the GJB6 gene encoding the gap junction protein connexin 30 have been shown to cause this disorder. To date, all mutations have involved two codons: G11R and A88V. Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome. The mutation was detected in genomic DNA, confirmed in reverse transcription polymerase chain reaction products, and was excluded from 100 ethnically matched control individuals by restriction enzyme analysis.</description><identifier>ISSN: 0022-202X</identifier><identifier>EISSN: 1523-1747</identifier><identifier>DOI: 10.1046/j.0022-202x.2001.01689.x</identifier><identifier>PMID: 11874494</identifier><identifier>CODEN: JIDEAE</identifier><language>eng</language><publisher>Danvers, MA: Elsevier Inc</publisher><subject>Adult ; Alopecia - genetics ; Alopecia - pathology ; Base Sequence - genetics ; Biological and medical sciences ; Clouston syndrome ; Connexin 30 ; Connexins - genetics ; Dermatology ; Ectodermal Dysplasia - genetics ; Ectodermal Dysplasia - pathology ; Female ; gap junction proteins ; GJB6 ; Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue ; Heterozygote ; hidrotic ectodermal dysplasia ; Humans ; Medical sciences ; Mutation, Missense - genetics ; Nail Diseases - genetics ; Nail Diseases - pathology ; Nails - pathology ; Polymorphism, Genetic</subject><ispartof>Journal of investigative dermatology, 2002-03, Vol.118 (3), p.530-532</ispartof><rights>2002 The Society for Investigative Dermatology, Inc</rights><rights>2002 INIST-CNRS</rights><rights>Copyright Nature Publishing Group Mar 2002</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c565t-d7a38e7de113df2685b9c0623ef64fdeeb5f956def27c774b4c755de536c6e213</citedby><cites>FETCH-LOGICAL-c565t-d7a38e7de113df2685b9c0623ef64fdeeb5f956def27c774b4c755de536c6e213</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/210376806?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,64385,64387,64389,72469</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=13572681$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11874494$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Smith, Frances J.D.</creatorcontrib><creatorcontrib>Irwin McLean, W.H.</creatorcontrib><creatorcontrib>Morley, Susan M.</creatorcontrib><title>A Novel Connexin 30 Mutation in Clouston Syndrome</title><title>Journal of investigative dermatology</title><addtitle>J Invest Dermatol</addtitle><description>Clouston syndrome (hidrotic ectodermal dysplasia) is an autosomal dominant ectodermal dysplasia characterized by alopecia, palmoplantar hyperkeratosis, and nail dystrophy. Recently, mutations in the GJB6 gene encoding the gap junction protein connexin 30 have been shown to cause this disorder. To date, all mutations have involved two codons: G11R and A88V. Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome. The mutation was detected in genomic DNA, confirmed in reverse transcription polymerase chain reaction products, and was excluded from 100 ethnically matched control individuals by restriction enzyme analysis.</description><subject>Adult</subject><subject>Alopecia - genetics</subject><subject>Alopecia - pathology</subject><subject>Base Sequence - genetics</subject><subject>Biological and medical sciences</subject><subject>Clouston syndrome</subject><subject>Connexin 30</subject><subject>Connexins - genetics</subject><subject>Dermatology</subject><subject>Ectodermal Dysplasia - genetics</subject><subject>Ectodermal Dysplasia - pathology</subject><subject>Female</subject><subject>gap junction proteins</subject><subject>GJB6</subject><subject>Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue</subject><subject>Heterozygote</subject><subject>hidrotic ectodermal dysplasia</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Mutation, Missense - genetics</subject><subject>Nail Diseases - genetics</subject><subject>Nail Diseases - pathology</subject><subject>Nails - pathology</subject><subject>Polymorphism, Genetic</subject><issn>0022-202X</issn><issn>1523-1747</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqFkE1P3DAQhi3UChbKT6CKKrW3BH87OcKqpUgUDm0lbpbXnkheZW1qJ2j593XYLUhcevJY88zonQehiuCGYC7P1w3GlNYU021DMSYNJrLtmu0BWhBBWU0UV-_Q4h90f4SOc14XUHLRHqIjQlrFeccXiFxUt_ERhmoZQ4CtDxXD1Y9pNKOPoSrf5RCnPJb651NwKW7gA3rfmyHD6f49Qb-_ff21_F7f3F1dLy9uaiukGGunDGtBOSCEuZ7KVqw6iyVl0EveO4CV6DshHfRUWaX4ilslhAPBpJVACTtBX3Z7H1L8M0Ee9cZnC8NgApRIWhGBsaJdAT-9AddxSqFk05RgpmSLZYHaHWRTzDlBrx-S35j0pAnWs1O91rMuPTvVs1P97FRvy-jH_f5ptQH3OriXWIDPe8Bka4Y-mWB9fuWYUOX--aKzHRfMOCV4AYTEhNO29C93fShaHz0kna2HYMH5BHbULvr_p_0L9hadYA</recordid><startdate>20020301</startdate><enddate>20020301</enddate><creator>Smith, Frances J.D.</creator><creator>Irwin McLean, W.H.</creator><creator>Morley, Susan M.</creator><general>Elsevier Inc</general><general>Nature Publishing</general><general>Elsevier Limited</general><scope>6I.</scope><scope>AAFTH</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>3V.</scope><scope>7T5</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20020301</creationdate><title>A Novel Connexin 30 Mutation in Clouston Syndrome</title><author>Smith, Frances J.D. ; Irwin McLean, W.H. ; Morley, Susan M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c565t-d7a38e7de113df2685b9c0623ef64fdeeb5f956def27c774b4c755de536c6e213</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Adult</topic><topic>Alopecia - genetics</topic><topic>Alopecia - pathology</topic><topic>Base Sequence - genetics</topic><topic>Biological and medical sciences</topic><topic>Clouston syndrome</topic><topic>Connexin 30</topic><topic>Connexins - genetics</topic><topic>Dermatology</topic><topic>Ectodermal Dysplasia - genetics</topic><topic>Ectodermal Dysplasia - pathology</topic><topic>Female</topic><topic>gap junction proteins</topic><topic>GJB6</topic><topic>Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue</topic><topic>Heterozygote</topic><topic>hidrotic ectodermal dysplasia</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Mutation, Missense - genetics</topic><topic>Nail Diseases - genetics</topic><topic>Nail Diseases - pathology</topic><topic>Nails - pathology</topic><topic>Polymorphism, Genetic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Smith, Frances J.D.</creatorcontrib><creatorcontrib>Irwin McLean, W.H.</creatorcontrib><creatorcontrib>Morley, Susan M.</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</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>ProQuest Central (Corporate)</collection><collection>Immunology Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of investigative dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Smith, Frances J.D.</au><au>Irwin McLean, W.H.</au><au>Morley, Susan M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Novel Connexin 30 Mutation in Clouston Syndrome</atitle><jtitle>Journal of investigative dermatology</jtitle><addtitle>J Invest Dermatol</addtitle><date>2002-03-01</date><risdate>2002</risdate><volume>118</volume><issue>3</issue><spage>530</spage><epage>532</epage><pages>530-532</pages><issn>0022-202X</issn><eissn>1523-1747</eissn><coden>JIDEAE</coden><abstract>Clouston syndrome (hidrotic ectodermal dysplasia) is an autosomal dominant ectodermal dysplasia characterized by alopecia, palmoplantar hyperkeratosis, and nail dystrophy. Recently, mutations in the GJB6 gene encoding the gap junction protein connexin 30 have been shown to cause this disorder. To date, all mutations have involved two codons: G11R and A88V. Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome. The mutation was detected in genomic DNA, confirmed in reverse transcription polymerase chain reaction products, and was excluded from 100 ethnically matched control individuals by restriction enzyme analysis.</abstract><cop>Danvers, MA</cop><pub>Elsevier Inc</pub><pmid>11874494</pmid><doi>10.1046/j.0022-202x.2001.01689.x</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Alopecia - genetics Alopecia - pathology Base Sequence - genetics Biological and medical sciences Clouston syndrome Connexin 30 Connexins - genetics Dermatology Ectodermal Dysplasia - genetics Ectodermal Dysplasia - pathology Female gap junction proteins GJB6 Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue Heterozygote hidrotic ectodermal dysplasia Humans Medical sciences Mutation, Missense - genetics Nail Diseases - genetics Nail Diseases - pathology Nails - pathology Polymorphism, Genetic |
| title | A Novel Connexin 30 Mutation in Clouston Syndrome |
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