{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T21:10:44Z","timestamp":1779916244868,"version":"3.53.1"},"reference-count":20,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,9,9]],"date-time":"2020-09-09T00:00:00Z","timestamp":1599609600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary mucoepithelial dysplasia (HMD) is an uncommon autosomal dominant disease affecting skin, mucosae, hair, eyes, and lungs. Prominent clinical features include non\u2010scarring alopecia, mucosal erythema, perineal erythematous intertrigo, and involvement of the conjunctival mucosa. To date, 20 familial or sporadic HMD cases have been described, most of them originating from Caucasian ethnic groups. In this study, a novel HMD pedigree, including an affected father and his daughter, is reported. Clinical expression showed significant differences in affected subjects, especially in the distribution and severity of skin lesions. Exome sequencing demonstrated that both affected subjects carried a heterozygous c.1669C&gt;T (p.Arg557Cys) pathogenic variant in the <jats:italic>SREBF1<\/jats:italic> gene. Our results improve the knowledge of the clinical and genetic features of HMD. In addition, a comparative review of the clinical features of all published HMD cases is presented.<\/jats:p>","DOI":"10.1002\/ajmg.a.61849","type":"journal-article","created":{"date-parts":[[2020,9,27]],"date-time":"2020-09-27T09:14:03Z","timestamp":1601198043000},"page":"2773-2777","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Exome sequencing identifies a <i>SREBF1<\/i> recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6274-6041","authenticated-orcid":false,"given":"Oscar F.","family":"Chacon\u2010Camacho","sequence":"first","affiliation":[{"name":"Department of Genetics Institute of Ophthalmology \u201cConde de Valenciana\u201d  Mexico City Mexico"},{"name":"Faculty of Superior Studies\u2010Iztacala, Department of Genetics and Molecular Biology, School of Medicine Universidad Nacional Aut\u00f3noma de M\u00e9xico  Tlalnepantla Estado de Mexico Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rocio","family":"Arce\u2010Gonzalez","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Ophthalmology \u201cConde de Valenciana\u201d  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thania","family":"Ordaz\u2010Robles","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Ophthalmology \u201cConde de Valenciana\u201d  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Perezpe\u00f1a\u2010Diazconti","sequence":"additional","affiliation":[{"name":"Department of Pathology Institute of Ophthalmology \u201cConde de Valenciana\u201d  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angel","family":"Nava\u2010Casta\u00f1eda","sequence":"additional","affiliation":[{"name":"Department of Orbit and Oculoplastics Institute of Ophthalmology \u201cConde de Valenciana\u201d  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9716-8146","authenticated-orcid":false,"given":"Juan Carlos","family":"Zenteno","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Ophthalmology \u201cConde de Valenciana\u201d  Mexico City Mexico"},{"name":"Faculty of Medicine, Department of Biochemistry Universidad Nacional Aut\u00f3noma de M\u00e9xico  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,9,9]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2005.06664.x"},{"issue":"6","key":"e_1_2_9_3_1","first-page":"406","article-title":"Methylation\u2010mediated deamination of 5\u2010methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides","volume":"4","author":"Cooper D. 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