{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T12:49:46Z","timestamp":1774270186494,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,7,5]],"date-time":"2024-07-05T00:00:00Z","timestamp":1720137600000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["23K17188"],"award-info":[{"award-number":["23K17188"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP23ek0109549"],"award-info":[{"award-number":["JP23ek0109549"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Inherited glycosylphosphatidylinositol (GPI) deficiency is an autosomal recessive disease and a set of syndromes caused by different genes involved in the biosynthesis of phosphatidylinositol characterized by severe cognitive disability, elevated serum alkaline phosphatase (ALP) levels, and distinct facial features. This report presents a patient with inherited GPI deficiency caused by a homozygous frameshift variant of <jats:italic>PGAP3<\/jats:italic> due to uniparental isodisomy (UPiD) on chromosome 17.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Clinical characteristics of the patient were collected. Microarray analysis followed by adaptive sampling sequencing targeting chromosome 17 was used for the identification of variants. Sanger sequencing was used to confirm the variant in the target region.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patient was born at 38\u2009weeks of gestation with a birthweight of 3893\u2009g. He had a distinctive facial appearance with hypertelorism, wide nasal bridge, and cleft soft palate. Postnatal head magnetic resonance imaging revealed a Blake's pouch cyst. The serum ALP level was 940\u2009IU\/L at birth and increased to 1781\u2009IU\/L at 28\u2009days of age. Microarray analysis revealed region of homozygosity in nearly the entire region of chromosome 17, leading to the diagnosis of UPiD. Adaptive sampling sequencing targeting chromosome 17 confirmed the homozygous variant NM_033419:c.778dupG (p.Val260Glyfs*14) in the <jats:italic>PGAP3<\/jats:italic> gene, resulting in a diagnosis of inherited GPI deficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first report of inherited GPI deficiency caused by UPiD. Inherited GPI deficiency must be considered in patients with unexplained hyperphosphatasemia.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2452","type":"journal-article","created":{"date-parts":[[2024,7,5]],"date-time":"2024-07-05T11:34:54Z","timestamp":1720179294000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A case of inherited glycosylphosphatidylinositol deficiency caused by <scp><i>PGAP3<\/i><\/scp> variant with uniparental isodisomy on chromosome 17"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6648-1271","authenticated-orcid":false,"given":"Takeo","family":"Mukai","sequence":"first","affiliation":[{"name":"Department of Pediatrics The University of Tokyo Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shota","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The University of Tokyo Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The University of Tokyo Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukiko","family":"Kuroda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The University of Tokyo Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0958-5028","authenticated-orcid":false,"given":"Hiroki","family":"Kitaoka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The University of Tokyo Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The University of Tokyo Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshihiko","family":"Shitara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The University of Tokyo Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kohei","family":"Kashima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The University of Tokyo Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirokazu","family":"Takami","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery The University of Tokyo Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoto","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The University of Tokyo Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Motohiro","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The University of Tokyo Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,7,5]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13033"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40627"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.12.012"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23006"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073\u2010017\u20100510\u20105"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010019\u20100348\u2010y"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.3930"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2010.182"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.758899"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2023.03.004"}],"container-title":["Molecular Genetics &amp; 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