{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:06:57Z","timestamp":1747184817924,"version":"3.40.5"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,7,29]],"date-time":"2021-07-29T00:00:00Z","timestamp":1627516800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100012542","name":"Sichuan Province Science and Technology Support Program","doi-asserted-by":"publisher","award":["2020YFS0197","2020YJ0059"],"award-info":[{"award-number":["2020YFS0197","2020YJ0059"]}],"id":[{"id":"10.13039\/100012542","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002858","name":"China Postdoctoral Science Foundation","doi-asserted-by":"publisher","award":["2020M683318"],"award-info":[{"award-number":["2020M683318"]}],"id":[{"id":"10.13039\/501100002858","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cole disease (OMIM 615522), caused by mutations in <jats:italic>ENPP1<\/jats:italic>, is a rare autosomal dominant or recessive genodermatosis characterized by guttate hypopigmentation and punctate palmoplantar keratoderma. To date, a few cases with autosomal recessive inheritance had been reported with hyperpigmentation. The aim of this case report was to investigate the molecular basis of individuals with hyperpigmentation, hypopigmentation and punctate keratoderma in a Chinese family. A Chinese pedigree of suspected Cole disease with hyperpigmentation was subjected to mutation detection in the <jats:italic>ENPP1<\/jats:italic> gene. All exons of the <jats:italic>ENPP1<\/jats:italic> gene and adjacent exon\u2010intron border sequences were amplified using polymerase chain reaction and directly sequenced. Three\u2010dimensional (3D) models of the wild\u2010type and mutated ENPP1 proteins were predicted by PyMOL viewer. Both of the proband and his affected father carried a heterozygous missense mutation p.C176R in <jats:italic>ENPP1<\/jats:italic>. <jats:italic>In silico<\/jats:italic> modelling of the ENPP1 wild\u2010type and ENPP1 with the p.C176R mutation showed the residue Arg\u2010176 disturbed the fold of the loop conformation. Based on clinical and genetic findings, a diagnosis of Cole disease was made. We identified a heterozygous mutation, p.C176R, in the <jats:italic>ENPP1<\/jats:italic> gene in a Chinese family with Cole disease. This study clearly showed that hyperpigmentation could also occur in Cole disease in cases with autosomal dominant inheritance. Our data expand the phenotypic spectrum of <jats:italic>ENPP1<\/jats:italic> mutations underlying Cole disease.<\/jats:p>","DOI":"10.1111\/exd.14434","type":"journal-article","created":{"date-parts":[[2021,7,23]],"date-time":"2021-07-23T12:56:58Z","timestamp":1627045018000},"page":"248-254","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Hyperpigmentation in a Chinese family with autosomal dominant Cole disease"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3804-8256","authenticated-orcid":false,"given":"Zhongtao","family":"Li","sequence":"first","affiliation":[{"name":"Department of Dermatology West China Hospital Sichuan University Chengdu China"},{"name":"Laboratory of Dermatology Clinical Institute of Inflammation and Immunology (CIII) Frontiers Science Center for Disease\u2010related Molecular Network West China Hospital Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology West China Hospital Sichuan University Chengdu China"},{"name":"Laboratory of Dermatology Clinical Institute of Inflammation and Immunology (CIII) Frontiers Science Center for Disease\u2010related Molecular Network West China Hospital Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheng","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology West China Hospital Sichuan University Chengdu China"},{"name":"Laboratory of Dermatology Clinical Institute of Inflammation and Immunology (CIII) Frontiers Science Center for Disease\u2010related Molecular Network West China Hospital Sichuan University Chengdu 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