{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T02:33:38Z","timestamp":1792982018076,"version":"4.5.0"},"reference-count":20,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T00:00:00Z","timestamp":1791763200000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Nonsyndromic Epidermal Differentiation Disorders (nEDD) are a group of heterogeneous disorders characterized by scaling and erythema. Pathogenic variants in\n                      <jats:italic>SDR9C7<\/jats:italic>\n                      cause\n                      <jats:italic>SDR9C7<\/jats:italic>\n                      \u2010nEDD. We report two affected siblings from a consanguineous Saudi family presenting with distinct clinical phenotypes. The older affected brother exhibited generalized xerosis with both white and brown scaling, neck hyperpigmentation, and a velvety texture on the posterior neck. The younger sister showed diffuse xerosis with fine white scaling and marked palmoplantar hyperlinearity.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A family with two siblings suspected of a rare genetic disease was recruited. Given the phenotypic variability, whole\u2010exome sequencing (WES) was carried out for the proband brother to identify the genetic cause. Sanger sequencing was used to confirm the finding in the proband and to examine segregation analysis for the family members. In silico prediction tools were also used to assess the variant's pathogenicity.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      WES identified a novel homozygous\n                      <jats:italic>SDR9C7<\/jats:italic>\n                      variant (NM_148897.3:c.154G&gt;A; p.Val52Met). The affected sister was also homozygous for the variant. The variant was rare in global population databases, absent from the local database, and showed complete segregation within the family. Multiple prediction tools classified the variant as pathogenic and deleterious.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study expands the clinical spectrum of\n                      <jats:italic>SDR9C<\/jats:italic>\n                      7\u2010nEDD, demonstrating its phenotypic variability even with the same novel variant. These findings highlight the contribution of additional modifying factors and emphasize the essential role of WES in diagnosing genetically heterogeneous skin disorders when genotype\u2013phenotype correlation is uncertain.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70322","type":"journal-article","created":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T05:28:06Z","timestamp":1791869286000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Homozygous Variant Associated With Distinct Clinical Phenotypes of\n                    <i>SDR9C7<\/i>\n                    Nonsyndromic Epidermal Differentiation Disorder in Two Affected Patients From a Consanguineous Saudi Family"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8494-6586","authenticated-orcid":false,"given":"Faisal","family":"Almalki","sequence":"first","affiliation":[{"name":"Clinical Laboratory Sciences, Applied Medical Science Taibah University  Medina Saudi Arabia"},{"name":"Center for Genetics and Inherited Diseases Taibah University  Medina Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zaker","family":"Khoj","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Ministry of Health King Fahad General Hospital  Medina Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3004-0057","authenticated-orcid":false,"given":"Essa","family":"Alharbi","sequence":"additional","affiliation":[{"name":"Center for Genetics and Inherited Diseases Taibah University  Medina Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-7838-0319","authenticated-orcid":false,"given":"Osama","family":"Alsharif","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Ministry of Health King Fahad General Hospital  Medina Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,12]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/bjd\/ljaf154"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365\u20102230.2003.01295.x"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.64236"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14389"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010023\u201006045\u20100"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.adg7492"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.8.623"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920\u2010021\u201001154\u2010z"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.13319"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsbmb.2009.08.001"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkae241"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.11.020"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1016"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw277"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkab266"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci130675"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1219240"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2020.11.030"}],"container-title":["Molecular Genetics &amp; 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