{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T11:09:32Z","timestamp":1778324972928,"version":"3.51.4"},"reference-count":0,"publisher":"Pakistan Journal of Medical Sciences","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pak J Med Sci"],"abstract":"<jats:p>Lipoid proteinosis is a rare multisystem genodermatosis inherited as autosomal recessive trait. We report a case of lipoid proteinosis in a 10-year-old boy born to first-degree consanguineous parents presented with marked hoarseness of voice, accelerated photoaging appearance, enlarged and erythematous tongue with restricted movement and widespread dermatoses. Biopsy of oral mucosa revealed Periodic acid-Schiff (PAS)-positive amorphous eosinophilic hyaline deposits. Mutational analysis revealed a homozygous nonsense mutation with C to T substitution at nucleotide position 1246(c.1246C&gt;T) in exon-8 of the extracellular matrix protein 1 gene leading to a stop codon. Both the parents were unaffected heterozygous carriers. To our knowledge, this is the first case report of lipoid proteinosis with evidence of a novel nonsense genetic mutation from Bangladesh.\r\ndoi: https:\/\/doi.org\/10.12669\/pjms.39.4.7437\r\nHow to cite this: Khan MAH, Reza MA, Sharaf IM, Alam MJ, Rahman MM, Chandra P, et al. Lipoid Proteinosis: Identification of a Novel Nonsense Mutation c.1246C&gt;T:p.R416X in ECM1 gene from Bangladesh. Pak J Med Sci. 2023;39(4):1212-1215. doi: https:\/\/doi.org\/10.12669\/pjms.39.4.7437\r\nThis is an Open Access article distributed under the terms of the Creative Commons Attribution License (http:\/\/creativecommons.org\/licenses\/by\/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.<\/jats:p>","DOI":"10.12669\/pjms.39.4.7437","type":"journal-article","created":{"date-parts":[[2023,5,16]],"date-time":"2023-05-16T05:31:33Z","timestamp":1684215093000},"source":"Crossref","is-referenced-by-count":0,"title":["Lipoid Proteinosis: Identification of a Novel Nonsense Mutation c.1246C&gt;T:p.R416X in ECM1 gene from Bangladesh"],"prefix":"10.12669","volume":"39","author":[{"given":"Md. Azraf Hossain","family":"Khan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Md. Abu","family":"Reza","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ibrahim Md.","family":"Sharaf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Md. Jahangir","family":"Alam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Md. Mostafizur","family":"Rahman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pampa","family":"Chandra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazi Selim","family":"Anwar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Md. Abdus","family":"Salam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"4935","published-online":{"date-parts":[[2023,6,15]]},"container-title":["Pakistan Journal of Medical Sciences"],"original-title":[],"link":[{"URL":"https:\/\/pjms.org.pk\/index.php\/pjms\/article\/download\/7437\/1769","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/pjms.org.pk\/index.php\/pjms\/article\/download\/7437\/1769","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T10:35:00Z","timestamp":1778322900000},"score":1,"resource":{"primary":{"URL":"https:\/\/pjms.org.pk\/index.php\/pjms\/article\/view\/7437"}},"subtitle":["Lipoid Proteinosis"],"short-title":[],"issued":{"date-parts":[[2023,6,15]]},"references-count":0,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2023,5,12]]}},"URL":"https:\/\/doi.org\/10.12669\/pjms.39.4.7437","relation":{},"ISSN":["1681-715X","1682-024X"],"issn-type":[{"value":"1681-715X","type":"electronic"},{"value":"1682-024X","type":"print"}],"subject":[],"published":{"date-parts":[[2023,6,15]]}}}