{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T07:07:10Z","timestamp":1791356830431,"version":"4.3.1"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,2,11]],"date-time":"2022-02-11T00:00:00Z","timestamp":1644537600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81773311"],"award-info":[{"award-number":["81773311"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Monilethrix is a rare hereditary hair loss disorder characterized by hair fragility and beaded hair shaft alterations. Monilethrix is classically inherited in an autosomal dominant (AD) fashion caused by variants in the hair keratin genes <jats:italic>KRT81<\/jats:italic>, <jats:italic>KRT83,<\/jats:italic> or <jats:italic>KRT86<\/jats:italic>. Interestingly, an autosomal recessive (AR) form of monilethrix with variants in <jats:italic>DSG4<\/jats:italic> gene has also been reported in recent years.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To identify causative variants in Chinese patients with autosomal recessive (AR) form of monilethrix.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Three families with AR form of monilethrix were observed and sequence variant analysis of <jats:italic>DSG4<\/jats:italic> was performed by polymerase chain reaction (PCR), quantitative real\u2010time PCR, and DNA sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All the patients had sparse, fragile hair involving the scalp, eyebrows, and eyelashes with keratotic follicular papules and pruritus since birth. Atypical\u2010beaded hairs and broken hair shaft fragments were identified in all the patients under dermoscopy. Heterozygous variants c.837del and c. 2389C\u00a0&gt;\u00a0T, a homozygous splice site variant c.2355\u00a0+\u00a01G\u00a0&gt;\u00a0A, and a homozygous 48,644\u00a0bp large deletion variant g.31381440_31430084del in the <jats:italic>DSG4<\/jats:italic> gene were identified and verified in the families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This report provided further evidence for the phenotypic spectrum and clinical features of, and the expanded variant database of AR form of monilethrix.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1889","type":"journal-article","created":{"date-parts":[[2022,2,11]],"date-time":"2022-02-11T09:41:17Z","timestamp":1644572477000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Autosomal recessive monilethrix: Novel variants of the <i>DSG4<\/i> gene in three Chinese families"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4091-4777","authenticated-orcid":false,"given":"Cheng","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Dermatology Peking University People's Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Guangdong Provincial people's Hospital  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dingquan","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Dermatology China\u2010Japan Friendship Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjun","family":"Liao","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xijing Hospital The Fourth Military Medical University  Xi'an 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