{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T09:25:24Z","timestamp":1760865924621,"version":"3.37.3"},"reference-count":16,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,4,24]],"date-time":"2015-04-24T00:00:00Z","timestamp":1429833600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007786","name":"National Center for Child Health and Development","doi-asserted-by":"crossref","award":["24-5"],"award-info":[{"award-number":["24-5"]}],"id":[{"id":"10.13039\/100007786","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cleft lip\/palate\u2010ectodermal dysplasia syndrome is a rare, autosomal recessive disorder caused by homozygous loss\u2010of\u2010function mutations of the poliovirus receptor\u2010like 1 (<jats:italic><jats:styled-content style=\"fixed-case\">PVRL<\/jats:styled-content>1<\/jats:italic>) gene encoding nectin\u20101. Nectin\u20101 is a cell\u2013cell adhesion molecule that is important for the initial step in the formation of adherens junctions and tight junctions; it is expressed in keratinocytes, neurons, and the developing face and palate. Clinical manifestations comprise a unique facial appearance with cleft lip\/palate, ectodermal dysplasia, cutaneous syndactyly of the fingers and\/or toes, and in some cases, mental retardation. We present the first report, to our knowledge, of an Asian individual with cleft lip\/palate\u2010ectodermal dysplasia syndrome with a novel <jats:italic><jats:styled-content style=\"fixed-case\">PVRL<\/jats:styled-content>1<\/jats:italic> mutation. A 7\u2010year\u2010old Japanese boy, the first child of a consanguineous marriage, showed hypohidrotic ectodermal dysplasia with sparse, brittle, fine, dry hair and hypodontia, the unique facial appearance with cleft lip\/palate, cutaneous syndactyly of the fingers and mild mental retardation. Scanning electron microscopic examination of the hair demonstrated pili torti and pili trianguli et canaliculi. Mutation analysis of exon 2 of <jats:italic><jats:styled-content style=\"fixed-case\">PVRL<\/jats:styled-content>1<\/jats:italic> revealed a novel homozygous nonsense mutation, c.400C&gt;T (p.Arg134*). His parents were heterozygous for the mutant alleles. All four <jats:italic><jats:styled-content style=\"fixed-case\">PVRL<\/jats:styled-content>1<\/jats:italic> mutations identified in cleft lip\/palate\u2010ectodermal dysplasia syndrome to date, including this study, resulted in truncated proteins that lack the transmembrane domain and intracellular domain of nectin\u20101, which is necessary to initiate the cell\u2013cell adhesion process.<\/jats:p>","DOI":"10.1111\/1346-8138.12882","type":"journal-article","created":{"date-parts":[[2015,4,24]],"date-time":"2015-04-24T11:31:53Z","timestamp":1429875113000},"page":"715-719","source":"Crossref","is-referenced-by-count":13,"title":["Novel homozygous mutation, c.400C&gt;T (p.Arg134*), in the <i><scp>PVRL<\/scp>1<\/i> gene underlies cleft lip\/palate\u2010ectodermal dysplasia syndrome in an Asian patient"],"prefix":"10.1111","volume":"42","author":[{"given":"Kazue","family":"Yoshida","sequence":"first","affiliation":[{"name":"Department of Dermatology National Center for Child Health and Development Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryota","family":"Hayashi","sequence":"additional","affiliation":[{"name":"Laboratory of Genetic Skin Diseases Niigata University Graduate School of Medical and Dental Sciences Niigata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideki","family":"Fujita","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics National Center for Child Health and Development Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaya","family":"Kubota","sequence":"additional","affiliation":[{"name":"Department of Neurology National Center for Child Health and Development Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mai","family":"Kondo","sequence":"additional","affiliation":[{"name":"Department of Allergy National Center for Child Health and Development Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yutaka","family":"Shimomura","sequence":"additional","affiliation":[{"name":"Laboratory of Genetic Skin Diseases Niigata University Graduate School of Medical and Dental Sciences Niigata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hironori","family":"Niizeki","sequence":"additional","affiliation":[{"name":"Department of Dermatology National Center for Child Health and Development Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,4,24]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_7_2_1","DOI":"10.1136\/jmg.24.5.291"},{"doi-asserted-by":"publisher","key":"e_1_2_7_3_1","DOI":"10.1136\/jmg.25.1.37"},{"doi-asserted-by":"publisher","key":"e_1_2_7_4_1","DOI":"10.1136\/jmg.25.7.503"},{"doi-asserted-by":"publisher","key":"e_1_2_7_5_1","DOI":"10.1002\/ajmg.1320360420"},{"doi-asserted-by":"publisher","key":"e_1_2_7_6_1","DOI":"10.1002\/ajmg.1320410403"},{"doi-asserted-by":"publisher","key":"e_1_2_7_7_1","DOI":"10.1038\/78119"},{"doi-asserted-by":"publisher","key":"e_1_2_7_8_1","DOI":"10.1126\/science.280.5369.1618"},{"doi-asserted-by":"publisher","key":"e_1_2_7_9_1","DOI":"10.1128\/JVI.72.12.9992-10002.1998"},{"doi-asserted-by":"publisher","key":"e_1_2_7_10_1","DOI":"10.1046\/j.1365-2133.2003.05225.x"},{"doi-asserted-by":"publisher","key":"e_1_2_7_11_1","DOI":"10.1074\/jbc.M611159200"},{"doi-asserted-by":"publisher","key":"e_1_2_7_12_1","DOI":"10.1083\/jcb.200103113"},{"doi-asserted-by":"publisher","key":"e_1_2_7_13_1","DOI":"10.1371\/journal.pone.0056897"},{"doi-asserted-by":"publisher","key":"e_1_2_7_14_1","DOI":"10.1083\/jcb.145.3.539"},{"doi-asserted-by":"publisher","key":"e_1_2_7_15_1","DOI":"10.1016\/S0092-8674(00)81646-3"},{"doi-asserted-by":"publisher","key":"e_1_2_7_16_1","DOI":"10.1111\/exd.12593"},{"doi-asserted-by":"publisher","key":"e_1_2_7_17_1","DOI":"10.1016\/j.ajhg.2010.07.003"}],"container-title":["The 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