Two novel missense mutations of ATP2A2 in two Chinese patients with sporadic Darier Disease
Summary Darier disease (DD) is a rare autosomal dominant skin disorder with characteristic abnormal keratinization and acantholysis. The causative gene, ATP2A2, is located on chromosome 12, and encodes a sarco/endoplasmic reticulum calcium pump ATPase (SERCA2). Two Chinese patients with sporadic DD...
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| Veröffentlicht in: | Clinical and experimental dermatology 2015-03, Vol.40 (2), p.201-203 |
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| container_title | Clinical and experimental dermatology |
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| creator | Liang, Y. H. Zhang, Q. G. Liu, Q. X. |
| description | Summary
Darier disease (DD) is a rare autosomal dominant skin disorder with characteristic abnormal keratinization and acantholysis. The causative gene, ATP2A2, is located on chromosome 12, and encodes a sarco/endoplasmic reticulum calcium pump ATPase (SERCA2). Two Chinese patients with sporadic DD participated in this study. Genomic sequence analysis identified two novel missense mutations (c.742C>A and c.2098A>G) in the ATP2A2 gene. Our findings provide an additional ATP2A2 mutation causative for DD development, and new lines of evidences for the understanding of genotype–phenotype correlations. |
| doi_str_mv | 10.1111/ced.12452 |
| format | Article |
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Darier disease (DD) is a rare autosomal dominant skin disorder with characteristic abnormal keratinization and acantholysis. The causative gene, ATP2A2, is located on chromosome 12, and encodes a sarco/endoplasmic reticulum calcium pump ATPase (SERCA2). Two Chinese patients with sporadic DD participated in this study. Genomic sequence analysis identified two novel missense mutations (c.742C>A and c.2098A>G) in the ATP2A2 gene. Our findings provide an additional ATP2A2 mutation causative for DD development, and new lines of evidences for the understanding of genotype–phenotype correlations.</description><identifier>ISSN: 0307-6938</identifier><identifier>EISSN: 1365-2230</identifier><identifier>DOI: 10.1111/ced.12452</identifier><identifier>PMID: 25283811</identifier><identifier>CODEN: CEDEDE</identifier><language>eng</language><publisher>England: Blackwell Publishing Ltd</publisher><subject>Adult ; Darier Disease - genetics ; Humans ; Male ; Middle Aged ; Mutation ; Mutation, Missense ; Sarcoplasmic Reticulum Calcium-Transporting ATPases - genetics</subject><ispartof>Clinical and experimental dermatology, 2015-03, Vol.40 (2), p.201-203</ispartof><rights>2014 British Association of Dermatologists</rights><rights>2014 British Association of Dermatologists.</rights><rights>Copyright © 2015 British Association of Dermatologists</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3912-18d3caa70f0507cd12e19c8c76f61df45dacff7696fd83e3df9f18e75d624df23</citedby><cites>FETCH-LOGICAL-c3912-18d3caa70f0507cd12e19c8c76f61df45dacff7696fd83e3df9f18e75d624df23</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25283811$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Liang, Y. H.</creatorcontrib><creatorcontrib>Zhang, Q. G.</creatorcontrib><creatorcontrib>Liu, Q. X.</creatorcontrib><title>Two novel missense mutations of ATP2A2 in two Chinese patients with sporadic Darier Disease</title><title>Clinical and experimental dermatology</title><addtitle>Clin Exp Dermatol</addtitle><description>Summary
Darier disease (DD) is a rare autosomal dominant skin disorder with characteristic abnormal keratinization and acantholysis. The causative gene, ATP2A2, is located on chromosome 12, and encodes a sarco/endoplasmic reticulum calcium pump ATPase (SERCA2). Two Chinese patients with sporadic DD participated in this study. Genomic sequence analysis identified two novel missense mutations (c.742C>A and c.2098A>G) in the ATP2A2 gene. Our findings provide an additional ATP2A2 mutation causative for DD development, and new lines of evidences for the understanding of genotype–phenotype correlations.</description><subject>Adult</subject><subject>Darier Disease - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Mutation, Missense</subject><subject>Sarcoplasmic Reticulum Calcium-Transporting ATPases - genetics</subject><issn>0307-6938</issn><issn>1365-2230</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp10E9vFCEYBnBiNHatHvwChsSLHqblhQVmjutu_5g01cMaDx4IwktKnR22MOPaby91ux5M5EJCfu8T3oeQ18BOoJ5Th_4E-FzyJ2QGQsmGc8GekhkTTDeqE-0ReVHKLWMgQMvn5IhL3ooWYEa-rXeJDukn9nQTS8GhIN1Mox1jGgpNgS7Wn_mC0zjQscrlTRywkm0FOIyF7uJ4Q8s2ZeujoyubI2a6igVtwZfkWbB9wVeP9zH5cn62Xl42V58uPi4XV40THfAGWi-ctZoFJpl2HjhC51qnVVDgw1x660LQqlPBtwKFD12AFrX0is994OKYvNvnbnO6m7CMpq7isO_tgGkqBpTUdXHGukrf_kNv05SH-rsHJWttLbCq3u-Vy6mUjMFsc9zYfG-AmYfGTW3c_Gm82jePidP3TX09yEPFFZzuwS72eP__JLM8Wx0im_1ELCP--jth8w-jtNDSfL2-MJerc_ZBX2szF78BywCX-A</recordid><startdate>201503</startdate><enddate>201503</enddate><creator>Liang, Y. H.</creator><creator>Zhang, Q. G.</creator><creator>Liu, Q. X.</creator><general>Blackwell Publishing Ltd</general><general>Oxford University Press</general><scope>BSCLL</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>7T5</scope><scope>H94</scope><scope>K9.</scope><scope>7X8</scope></search><sort><creationdate>201503</creationdate><title>Two novel missense mutations of ATP2A2 in two Chinese patients with sporadic Darier Disease</title><author>Liang, Y. H. ; Zhang, Q. G. ; Liu, Q. X.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3912-18d3caa70f0507cd12e19c8c76f61df45dacff7696fd83e3df9f18e75d624df23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Adult</topic><topic>Darier Disease - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Mutation, Missense</topic><topic>Sarcoplasmic Reticulum Calcium-Transporting ATPases - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Liang, Y. H.</creatorcontrib><creatorcontrib>Zhang, Q. G.</creatorcontrib><creatorcontrib>Liu, Q. X.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical and experimental dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Liang, Y. H.</au><au>Zhang, Q. G.</au><au>Liu, Q. X.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Two novel missense mutations of ATP2A2 in two Chinese patients with sporadic Darier Disease</atitle><jtitle>Clinical and experimental dermatology</jtitle><addtitle>Clin Exp Dermatol</addtitle><date>2015-03</date><risdate>2015</risdate><volume>40</volume><issue>2</issue><spage>201</spage><epage>203</epage><pages>201-203</pages><issn>0307-6938</issn><eissn>1365-2230</eissn><coden>CEDEDE</coden><abstract>Summary
Darier disease (DD) is a rare autosomal dominant skin disorder with characteristic abnormal keratinization and acantholysis. The causative gene, ATP2A2, is located on chromosome 12, and encodes a sarco/endoplasmic reticulum calcium pump ATPase (SERCA2). Two Chinese patients with sporadic DD participated in this study. Genomic sequence analysis identified two novel missense mutations (c.742C>A and c.2098A>G) in the ATP2A2 gene. Our findings provide an additional ATP2A2 mutation causative for DD development, and new lines of evidences for the understanding of genotype–phenotype correlations.</abstract><cop>England</cop><pub>Blackwell Publishing Ltd</pub><pmid>25283811</pmid><doi>10.1111/ced.12452</doi><tpages>3</tpages></addata></record> |
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| identifier | ISSN: 0307-6938 |
| ispartof | Clinical and experimental dermatology, 2015-03, Vol.40 (2), p.201-203 |
| issn | 0307-6938 1365-2230 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1657317009 |
| source | Oxford University Press Journals All Titles (1996-Current); MEDLINE; Alma/SFX Local Collection |
| subjects | Adult Darier Disease - genetics Humans Male Middle Aged Mutation Mutation, Missense Sarcoplasmic Reticulum Calcium-Transporting ATPases - genetics |
| title | Two novel missense mutations of ATP2A2 in two Chinese patients with sporadic Darier Disease |
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