{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,20]],"date-time":"2026-06-20T15:26:30Z","timestamp":1781969190090,"version":"3.54.5"},"reference-count":73,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,8,16]],"date-time":"2022-08-16T00:00:00Z","timestamp":1660608000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p><jats:bold>Background:<\/jats:bold> Due to nonspecific symptoms, rare dyslipidaemias are frequently misdiagnosed, overlooked, and undertreated, leading to increased risk for severe cardiovascular disease, pancreatitis and\/or multiple organ failures before diagnosis. Better guidelines for the recognition and early diagnosis of rare dyslipidaemias are urgently required.<\/jats:p><jats:p><jats:bold>Methods:<\/jats:bold> Genomic DNA was isolated from blood samples of a Pakistani paediatric patient with hypertriglyceridemia, and from his parents and siblings. Next-generation sequencing (NGS) was performed, and an expanded dyslipidaemia panel was employed for genetic analysis.<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> The NGS revealed the presence of a homozygous missense pathogenic variant c.230G&amp;gt;A (NM_178172.6) in exon 3 of the <jats:italic>GPIHBP1<\/jats:italic> (glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1) gene resulting in amino acid change p.Cys77Tyr (NP_835466.2). The patient was 5.5\u00a0years old at the time of genetic diagnosis. The maximal total cholesterol and triglyceride levels were measured at the age of 10\u00a0months (850.7\u00a0mg\/dl, 22.0\u00a0mmol\/L and 5,137\u00a0mg\/dl, 58.0\u00a0mmol\/L, respectively). The patient had cholesterol deposits at the hard palate, eruptive xanthomas, lethargy, poor appetite, and mild splenomegaly. Both parents and sister were heterozygous for the familial variant in the <jats:italic>GPIHBP1<\/jats:italic> gene. Moreover, in the systematic review, we present 62 patients with pathogenic variants in the <jats:italic>GPIHBP1<\/jats:italic> gene and clinical findings, associated with hyperlipoproteinemia.<\/jats:p><jats:p><jats:bold>Conclusion:<\/jats:bold> In a child with severe hypertriglyceridemia, we identified a pathogenic variant in the <jats:italic>GPIHBP1<\/jats:italic> gene causing hyperlipoproteinemia (type 1D). In cases of severe elevations of plasma cholesterol and\/or triglycerides genetic testing for rare dyslipidaemias should be performed as soon as possible for optimal therapy and patient management.<\/jats:p>","DOI":"10.3389\/fgene.2022.983283","type":"journal-article","created":{"date-parts":[[2022,8,16]],"date-time":"2022-08-16T04:40:34Z","timestamp":1660624834000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review"],"prefix":"10.3389","volume":"13","author":[{"given":"Ursa","family":"Sustar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Urh","family":"Groselj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabeen Abid","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saeed","family":"Shafi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iqbal","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jernej","family":"Kovac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara Jenko","family":"Bizjan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadej","family":"Battelino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fouzia","family":"Sadiq","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,8,16]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1016\/j.jacl.2014.08.010","article-title":"Familial chylomicronemia syndrome and response to medium-chain triglyceride therapy in an infant with novel mutations in GPIHBP1","volume":"8","author":"Ahmad","year":"2014","journal-title":"J. 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