{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T12:16:31Z","timestamp":1771935391569,"version":"3.50.1"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2025,12,11]],"date-time":"2025-12-11T00:00:00Z","timestamp":1765411200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"grants from Shanghai Children\u2019s Hospital","award":["2024YGZQ02"],"award-info":[{"award-number":["2024YGZQ02"]}]},{"name":"Shanghai School of Traditional Chinese Medicine","award":["no. zywxg202101"],"award-info":[{"award-number":["no. zywxg202101"]}]},{"name":"Construction of the Xu\u2019s Pediatric Academic Inheritance","award":["no. 2021LPTD-006"],"award-info":[{"award-number":["no. 2021LPTD-006"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Erythrokeratodermia variabilis et progressiva (EKVP) is a rare, inherited skin disease characterized by migratory erythematous areas and fixed hyperkeratosis plaques, which is most commonly caused by mutations in GJB3, GJB4 or GJA1. A 5-month-old male infant presented with erythematous skin lesions on the trunk and brown hyperkeratotic plaques, with a unique swirling pattern on the extremities. Whole-exome sequencing revealed a heterozygous missense mutation c.134G&amp;gt;C in GJB3, which has not previously been reported. PROVEAN (Protein Variation Effect Analyser) analysis revealed a score of \u20133.065, which was below the threshold of \u20132.5. In addition, the three-dimensional (3D) structure predicted that missense mutation p.Gly45Ala could compromise the 3D stability of the GJB3 protein, suggesting a deleterious effect. This novel missense mutation in GJB3 that caused EKVP with a unique swirling pattern in a Chinese family broadens the genetic and phenotypic spectrum of EKVP.<\/jats:p>","DOI":"10.1093\/ced\/llaf510","type":"journal-article","created":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T13:11:33Z","timestamp":1764162693000},"page":"464-467","source":"Crossref","is-referenced-by-count":0,"title":["A novel missense mutation responsible for a patient with unique erythrokeratodermia variabilis with skin lesions in a swirling pattern"],"prefix":"10.1093","volume":"51","author":[{"given":"Shengyuan","family":"Hua","sequence":"first","affiliation":[{"name":"Shanghai Municipal Hospital of Traditional Chinese Medicine, Shanghai University of Traditional Chinese Medicine , Shanghai ,","place":["China"]},{"name":"Department of Dermatology, Shanghai Children\u2019s Hospital, School of Medicine, Shanghai JiaoTong University , Shanghai 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