{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T02:56:07Z","timestamp":1747191367744,"version":"3.40.5"},"reference-count":11,"publisher":"Wiley","license":[{"start":{"date-parts":[[2024,3,23]],"date-time":"2024-03-23T00:00:00Z","timestamp":1711152000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2024,3,23]]},"abstract":"<jats:p>Hyperphosphatasia with mental disorder (HPMRS) is a rare autosomal recessive disease caused by gene mutations in enzymes involved in the synthesis and remodeling of lipids. Seven-month-old boy diagnosed with bilateral glaucoma had a cleft palate, facial dysmorphism, hypertelorism, a broad nasal bridge, and large fleshy earlobes. A brain MRI scan also revealed brain abnormalities. The observed phenotype in a seven-month-old boy is in agreement with the phenotypic features of HPRMS type-4. Whole exome sequencing revealed a possible pathogenic variant of PGAP3 in a homozygous state (c.320C\u2009&gt;\u2009T, p.Ser107Leu) which supported the diagnosis of HPRMS type-4. We report an unusual presentation for HPMRS and suggest adding this syndrome to the list of differential diagnoses of syndromic congenital glaucoma.<\/jats:p>","DOI":"10.1155\/2024\/3561555","type":"journal-article","created":{"date-parts":[[2024,3,23]],"date-time":"2024-03-23T20:20:09Z","timestamp":1711225209000},"page":"1-3","source":"Crossref","is-referenced-by-count":0,"title":["Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia"],"prefix":"10.1155","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-4254-9960","authenticated-orcid":true,"given":"Osama","family":"Obaid","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Maternity and Children Hospital, Makkah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-6281-8301","authenticated-orcid":true,"given":"Reem","family":"Batawi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Maternity and Children Hospital, Makkah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-3265-1197","authenticated-orcid":true,"given":"Heba","family":"Alqurashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Maternity and Children Hospital, Makkah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0487-9959","authenticated-orcid":true,"given":"Thana","family":"Ewis","sequence":"additional","affiliation":[{"name":"Department of Radiology, Maternity and Children Hospital, Makkah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2678-4424","authenticated-orcid":true,"given":"Ahmad A.","family":"Obaid","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Faculty of Applied Medical Sciences, Umm Al Qura University, Makkah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9720-9"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2012.01.004"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-102156"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(70)80047-6"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35202"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13033"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.12.012"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23006"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1599148"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61797"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.3892\/etm.2020.8767"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2024\/3561555.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2024\/3561555.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2024\/3561555.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,23]],"date-time":"2024-03-23T20:20:12Z","timestamp":1711225212000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/crig\/2024\/3561555\/"}},"subtitle":[],"editor":[{"given":"Giuseppe","family":"Damante","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2024,3,23]]},"references-count":11,"alternative-id":["3561555","3561555"],"URL":"https:\/\/doi.org\/10.1155\/2024\/3561555","relation":{},"ISSN":["2090-6552","2090-6544"],"issn-type":[{"type":"electronic","value":"2090-6552"},{"type":"print","value":"2090-6544"}],"subject":[],"published":{"date-parts":[[2024,3,23]]}}}