Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1)
Ectodermal-dysplasia-syndactyly syndrome (EDSS1) is a rare form of ectodermal dysplasia (ED), affecting skin and its appendages mainly hair, teeth and nails. In the present study, we have investigated a large consanguineous Pakistani family with 10 individuals showing features of EDSS1. Human genome...
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| Veröffentlicht in: | Journal of human genetics 2011-05, Vol.56 (5), p.352-357 |
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| description | Ectodermal-dysplasia-syndactyly syndrome (EDSS1) is a rare form of ectodermal dysplasia (ED), affecting skin and its appendages mainly hair, teeth and nails. In the present study, we have investigated a large consanguineous Pakistani family with 10 individuals showing features of EDSS1. Human genome was screened using highly polymorphic microsatellite markers to identify the gene causing EDSS1. The disease locus for EDSS1 was assigned to chromosome 1q23.1-q23.3. This region corresponds to 5.63 Mb according to the sequenced based physical map (Build 36.2) of the human genome and flanked by markers D1S1653 and D1S1677. A maximum two-point LOD score of 5.05 was obtained with the marker D1S484. Sequence analysis revealed a homozygous missense mutation (c.635C>G; p.Pro212Arg) in the recently reported
PVRL4
gene causing EDSS1. The involvement of mutant nectin-4 in causing EDSS1 may open up interesting prospectives into the role of cell adhesion molecules in causing syndromic forms of EDs. |
| doi_str_mv | 10.1038/jhg.2011.18 |
| format | Article |
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PVRL4
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PVRL4
gene causing EDSS1. The involvement of mutant nectin-4 in causing EDSS1 may open up interesting prospectives into the role of cell adhesion molecules in causing syndromic forms of EDs.</description><subject>631/208/2489/144</subject><subject>631/208/737</subject><subject>Base Sequence</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cell adhesion & migration</subject><subject>Cell adhesion molecules</subject><subject>Cell Adhesion Molecules - genetics</subject><subject>Chromosome 1</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 1 - genetics</subject><subject>Consanguinity</subject><subject>Dysplasia</subject><subject>Ectodermal Dysplasia - genetics</subject><subject>Female</subject><subject>Gene Expression</subject><subject>Gene Function</subject><subject>Gene Therapy</subject><subject>Genetic markers</subject><subject>Genomes</subject><subject>Haplotypes</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Microsatellites</subject><subject>Missense mutation</subject><subject>Molecular Medicine</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Nails (Anatomy)</subject><subject>Nectin</subject><subject>original-article</subject><subject>Pedigree</subject><subject>Sequence analysis</subject><subject>Syndactyly</subject><subject>Syndactyly - genetics</subject><subject>Syndrome</subject><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp90U1r3DAQBmBREpo06Sn3IsghKak3-rIkH0u6-YANCdm29Ca80njrxZa3kn3wv6_cTRsopSe9SA8jZgahE0pmlHB9ufm-njFC6YzqV-iQCp5njLNve7-yyHIq6QF6E-OGEMKZYq_RAaNcSKXIIbL3Q1_2dedx7fHj16eFwGvwgMHbztV-jT3YvvaZwIN3EJoaIk43Xcpt2WRujNumjHWZxdG70vZjM-Iphq4FfD7_tFzS98dovyqbCG-fzyP05Xr--eo2Wzzc3F19XGQ250WfcSqt5typijq9ElozEKqouLBcFVIzy0FzEFVlc-ZytWIFSLkqlK1AV1I6foTOdnW3ofsxQOxNW0cLTVN66IZotNRKKqJUkuf_ldPgCFM6LxI9_YtuuiH41Idhgk1z53xSFztlQxdjgMpsQ92WYTSUmGlLJm3JTNpQnfS755rDqgX3x_5eSwIfdiCmJ7-G8PLpv-r9BHigmnE</recordid><startdate>20110501</startdate><enddate>20110501</enddate><creator>Jelani, Musharraf</creator><creator>Chishti, Muhammad Salman</creator><creator>Ahmad, Wasim</creator><general>Nature Publishing Group UK</general><general>Nature Publishing Group</general><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>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20110501</creationdate><title>Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1)</title><author>Jelani, Musharraf ; Chishti, Muhammad Salman ; Ahmad, Wasim</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c539t-316c833d7f1d8b4882e479f34c379682c3e83e4ffc52d57b29e66b97cfe8f66d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>631/208/2489/144</topic><topic>631/208/737</topic><topic>Base Sequence</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cell adhesion & migration</topic><topic>Cell adhesion molecules</topic><topic>Cell Adhesion Molecules - genetics</topic><topic>Chromosome 1</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 1 - genetics</topic><topic>Consanguinity</topic><topic>Dysplasia</topic><topic>Ectodermal Dysplasia - genetics</topic><topic>Female</topic><topic>Gene Expression</topic><topic>Gene Function</topic><topic>Gene Therapy</topic><topic>Genetic markers</topic><topic>Genomes</topic><topic>Haplotypes</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Microsatellites</topic><topic>Missense mutation</topic><topic>Molecular Medicine</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>Nails (Anatomy)</topic><topic>Nectin</topic><topic>original-article</topic><topic>Pedigree</topic><topic>Sequence analysis</topic><topic>Syndactyly</topic><topic>Syndactyly - genetics</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Jelani, Musharraf</creatorcontrib><creatorcontrib>Chishti, Muhammad Salman</creatorcontrib><creatorcontrib>Ahmad, Wasim</creatorcontrib><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>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</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 Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science 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>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jelani, Musharraf</au><au>Chishti, Muhammad Salman</au><au>Ahmad, Wasim</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1)</atitle><jtitle>Journal of human genetics</jtitle><stitle>J Hum Genet</stitle><addtitle>J Hum Genet</addtitle><date>2011-05-01</date><risdate>2011</risdate><volume>56</volume><issue>5</issue><spage>352</spage><epage>357</epage><pages>352-357</pages><issn>1434-5161</issn><eissn>1435-232X</eissn><abstract>Ectodermal-dysplasia-syndactyly syndrome (EDSS1) is a rare form of ectodermal dysplasia (ED), affecting skin and its appendages mainly hair, teeth and nails. In the present study, we have investigated a large consanguineous Pakistani family with 10 individuals showing features of EDSS1. Human genome was screened using highly polymorphic microsatellite markers to identify the gene causing EDSS1. The disease locus for EDSS1 was assigned to chromosome 1q23.1-q23.3. This region corresponds to 5.63 Mb according to the sequenced based physical map (Build 36.2) of the human genome and flanked by markers D1S1653 and D1S1677. A maximum two-point LOD score of 5.05 was obtained with the marker D1S484. Sequence analysis revealed a homozygous missense mutation (c.635C>G; p.Pro212Arg) in the recently reported
PVRL4
gene causing EDSS1. The involvement of mutant nectin-4 in causing EDSS1 may open up interesting prospectives into the role of cell adhesion molecules in causing syndromic forms of EDs.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>21346770</pmid><doi>10.1038/jhg.2011.18</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | 631/208/2489/144 631/208/737 Base Sequence Biomedical and Life Sciences Biomedicine Cell adhesion & migration Cell adhesion molecules Cell Adhesion Molecules - genetics Chromosome 1 Chromosome Mapping Chromosomes, Human, Pair 1 - genetics Consanguinity Dysplasia Ectodermal Dysplasia - genetics Female Gene Expression Gene Function Gene Therapy Genetic markers Genomes Haplotypes Human Genetics Humans Male Microsatellites Missense mutation Molecular Medicine Mutation Mutation - genetics Nails (Anatomy) Nectin original-article Pedigree Sequence analysis Syndactyly Syndactyly - genetics Syndrome |
| title | Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1) |
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