{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T03:50:58Z","timestamp":1771991458690,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,6,6]],"date-time":"2024-06-06T00:00:00Z","timestamp":1717632000000},"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":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Lipoid proteinosis (LP) is an inherited disorder characterized by the accumulation of hyaline\u2010like material in the skin, oral cavity, and larynx. The primary symptoms include hoarseness, restricted tongue movements, and various skin lesions. LP is caused by biallelic pathogenic variants in the <jats:italic>ECM1<\/jats:italic> gene. We studied 20 patients from nine different families with LP, 19 of whom are from \u015eanl\u0131urfa in the southeastern region of Turkiye. Overall, the clinical features of the patient cohort were consistent with those mentioned in the literature, except for one exhibited an atrophoderma vermiculatum\u2010like lesion, which is atypical for LP. The clinical exome sequencing analysis revealed three different homozygous variants in the <jats:italic>ECM1<\/jats:italic> gene (NM_004425). While c.1246C&gt;T p.(Arg416*) on Exon 8 and c.806G&gt;A p.(Cys269Tyr) on Exon 7 were detected in 1 patient each, an intragenic deletion of 1163 base\u2010pairs including Exons 9 and 10 (c.1304\u2009+\u200933_*300del) was identified in 18 patients from 7 unrelated families. The haplotype analysis of the deletion variant indicated a founder effect in the families from the \u015eanl\u0131urfa province of Turkiye. Based on all this information, copy number variation analysis is recommended for patients with LP. In addition to this rare observation, this study represents the largest examination of the molecular spectrum of LP patients in Turkiye, alongside the clinical spectrum.<\/jats:p>","DOI":"10.1002\/ajmg.a.63782","type":"journal-article","created":{"date-parts":[[2024,6,6]],"date-time":"2024-06-06T13:13:39Z","timestamp":1717679619000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A founder deletion in <scp><i>ECM1<\/i><\/scp> of 1163\u2009bp causes lipoid proteinosis in the southeast region of Turkiye"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3917-9792","authenticated-orcid":false,"given":"Elifcan","family":"Ta\u015fdelen","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Ankara Etlik City Hospital  Ankara Turkey"},{"name":"Department of Medical Genetics Sanliurfa Education and Research Hospital  Sanliurfa Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3886-3808","authenticated-orcid":false,"given":"Abdullah","family":"Sezer","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Ankara Etlik City Hospital  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3366-4551","authenticated-orcid":false,"given":"Isa","family":"An","sequence":"additional","affiliation":[{"name":"Department of Dermatology Sanliurfa Education and Research Hospital  Sanliurfa Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,6,6]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.3109\/09546631003639407"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.33204\/mucosa.936953"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2004.01440.x"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.4103\/ijd.IJD_365_18"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000531408"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2005.06.046"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.7.833"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/bies.201300068"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-2036"},{"key":"e_1_2_10_11_1","unstructured":"LeWitt T. M. Paller A. S. Bell A. & Zhou Xiaolong A. (2023).Lipoid proteinosis. StatPearls [Internet]: StatPearls Publishing."},{"issue":"4","key":"e_1_2_10_12_1","first-page":"220","article-title":"Lipoid proteinosis: Clinical, histologic, and ultrastructural investigations","volume":"56","author":"Muda A.","year":"1995","journal-title":"Cutis"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/1550059417705280"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2010.09.001"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000444615"},{"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":"10.1016\/j.apme.2017.05.002"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1176\/jnp.2008.20.1.86"},{"key":"e_1_2_10_19_1","volume-title":"Lipoid proteinosis","author":"Vahidnezhad H.","year":"2021"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2004.06076.x"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/1479-5876-12-85"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63782","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,6]],"date-time":"2025-04-06T01:00:48Z","timestamp":1743901248000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63782"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,6]]},"references-count":20,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2024,10]]}},"alternative-id":["10.1002\/ajmg.a.63782"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63782","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,6]]},"assertion":[{"value":"2024-03-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-06","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63782"}}