{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T17:17:44Z","timestamp":1783012664506,"version":"3.54.6"},"reference-count":20,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T00:00:00Z","timestamp":1773619200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T00:00:00Z","timestamp":1773619200000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Only a few studies describe five (or more) patients with inherited glycerol\u20103\u2010phosphate dehydrogenase 1 (GPD1) deficiency, often termed transient infantile hypertriglyceridemia (HTGTI). We report 18 additional patients with HTGTI (confirmed molecular diagnosis in 16, a variant of uncertain significance in two), most of whom presented in infancy with hepatomegaly. A significant negative correlation was noted between age at presentation and serum triglyceride levels. Except for two, all our patients have homozygous\n                    <jats:italic>GPD1<\/jats:italic>\n                    variants, wherein the c.500G&gt;A (p.Gly167Asp) variant was the most common (10 patients). Other variants identified included c.220\u20101G&gt;T, c.398C&gt;T (p.Ser133Leu, unpublished), c.806G&gt;A (p.Arg269Gln), and c.685C&gt;T (p.Arg229Trp, novel). Homozygosity matching in patients with the biallelic c.500G&gt;A variant showed that the\n                    <jats:italic>GPD1<\/jats:italic>\n                    gene is located within the only shared region of homozygosity (&gt;\u20091\u2009Mb). These patients also have a similar homozygous haplotype around the variant, construing its founder effect in South Asian patients with inherited GPD1 deficiency. Targeted testing for c.500G&gt;A could be considered as a first\u2010tier evaluation strategy in South Asian patients with HTGTI. However, given our limited sample size, further validatory studies are needed.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70129","type":"journal-article","created":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T03:56:45Z","timestamp":1773719805000},"page":"1753-1759","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Founder Effect of the c.\n                    <scp>500G<\/scp>\n                    &gt;A Variant in South Asian Patients With Inherited\n                    <scp>GPD1<\/scp>\n                    Deficiency: Report on 16 Patients and Variant Review"],"prefix":"10.1002","volume":"200","author":[{"given":"Ishaq","family":"Malik","sequence":"first","affiliation":[{"name":"Department of Pediatrics Government Medical College  Srinagar Kashmir India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5486-4267","authenticated-orcid":false,"given":"Aaqib Zaffar","family":"Banday","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Government Medical College  Srinagar Kashmir India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdus Sami","family":"Bhat","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Government Medical College  Srinagar Kashmir India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Usman Muzafar","family":"Jan","sequence":"additional","affiliation":[{"name":"Modern Hospital Super Specialty Healthcare Pvt. Ltd.  Srinagar Kashmir India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aisha Ashiq","family":"Reshie","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Government Medical College  Srinagar Kashmir India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Falah","family":"Fayaz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Government Medical College  Srinagar Kashmir India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-3043-8257","authenticated-orcid":false,"given":"Sahel","family":"Basharat","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Government Medical College  Srinagar Kashmir India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nisar Ahmad","family":"Wani","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology Government Medical College  Srinagar Kashmir India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,16]]},"reference":[{"key":"e_1_2_14_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jceh.2024.102484"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.imbio.2020.151912"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-023-01633-1"},{"key":"e_1_2_14_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.028"},{"key":"e_1_2_14_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9956-7"},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24309"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm13051465"},{"key":"e_1_2_14_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.8"},{"key":"e_1_2_14_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2022-248801"},{"key":"e_1_2_14_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-021-03663-2"},{"key":"e_1_2_14_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-025-02088-6"},{"key":"e_1_2_14_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12125"},{"key":"e_1_2_14_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbabio.2012.11.014"},{"key":"e_1_2_14_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2021-246369"},{"key":"e_1_2_14_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-20584-4"},{"key":"e_1_2_14_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_14_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13312-025-3365-7"},{"key":"e_1_2_14_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24088"},{"key":"e_1_2_14_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-020-03385-x"},{"key":"e_1_2_14_21_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.916672"}],"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.70129","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.70129","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70129","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T16:29:13Z","timestamp":1783009753000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.70129"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,16]]},"references-count":20,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2026,8]]}},"alternative-id":["10.1002\/ajmg.a.70129"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.70129","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,16]]},"assertion":[{"value":"2025-06-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-16","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}