{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T17:47:24Z","timestamp":1785520044605,"version":"3.56.0"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,5,20]],"date-time":"2022-05-20T00:00:00Z","timestamp":1653004800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004351","name":"Sultan Qaboos University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004351","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>Familial hypertriglyceridemia (F-HTG) is an autosomal disorder that causes severe elevation of serum triglyceride levels. It is caused by genetic alterations in <jats:italic>LPL<\/jats:italic>, <jats:italic>APOC2<\/jats:italic>, <jats:italic>APOA5<\/jats:italic>, <jats:italic>LMF1<\/jats:italic>, and <jats:italic>GPIHBP1<\/jats:italic> genes. The mutation spectrum of F-HTG in Arabic populations is limited. Here, we report the genetic spectrum of six families of F-HTG of Arab ancestry in Oman. Methods: six Omani families affected with triglyceride levels &amp;gt;11.2\u00a0mmol\/L were included in this study. Ampli-Seq sequencing of the selected gene panels was performed. Whole-exome sequencing and copy number variant analysis were also performed in cases with negative exome results. Three novel pathogenic missense variants in the <jats:italic>LPL<\/jats:italic> gene were identified, p.M328T, p.H229L, and p.S286G, along with a novel splice variant c.1322+15T &amp;gt; G. The <jats:italic>LPL<\/jats:italic> p.H229L variant existed in double heterozygous mutation with the <jats:italic>APOA5<\/jats:italic> gene p.V153M variant. One family had a homozygous mutation in the <jats:italic>LMF1<\/jats:italic> gene (c.G107A; p.G36D) and a heterozygous mutation in the <jats:italic>LPL<\/jats:italic> gene (c.G106A; p.D36N). All affected subjects did not have a serum deficiency of LPL protein. Genetic analysis in one family did not show any pathogenic variants even after whole-exome sequencing. These novel <jats:italic>LPL<\/jats:italic> and <jats:italic>APOA5<\/jats:italic> mutations are not reported in other ethnic groups. This suggests that patients with F-HTG in Oman have a founder effect and are genetically unique. This warrants further analysis of patients of F-HTG in the Middle East for preventative and counseling purposes to limit the spread of the disease in a population of high consanguinity.<\/jats:p>","DOI":"10.3389\/fgene.2022.886182","type":"journal-article","created":{"date-parts":[[2022,5,20]],"date-time":"2022-05-20T08:37:40Z","timestamp":1653035860000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["The Genetic Spectrum of Familial Hypertriglyceridemia in Oman"],"prefix":"10.3389","volume":"13","author":[{"given":"Khalid","family":"Al-Waili","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalid","family":"Al-Rasadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muna","family":"Al-Bulushi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed","family":"Habais","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdullah","family":"Al-Mujaini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saif","family":"Al-Yaarubi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine","family":"Rimbert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Razan","family":"Zadjali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pegah Moradi","family":"Khaniabadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamida","family":"Al-Barwani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sana","family":"Hasary","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zayana M.","family":"Al-Dahmani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hala","family":"Al-Badi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Almundher","family":"Al-Maawali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fahad","family":"Zadjali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,5,20]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"250","DOI":"10.1016\/j.jneumeth.2008.05.003","article-title":"The Use of Total Protein Stains as Loading Controls: An Alternative to High-Abundance Single-Protein Controls in Semi-quantitative Immunoblotting","volume":"172","author":"Aldridge","year":"2008","journal-title":"J. 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