{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T18:55:43Z","timestamp":1740164143532,"version":"3.37.3"},"reference-count":18,"publisher":"Wiley","license":[{"start":{"date-parts":[[2018,10,21]],"date-time":"2018-10-21T00:00:00Z","timestamp":1540080000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2018,10,21]]},"abstract":"<jats:p>Hajdu-Cheney Syndrome (HSC) is a rare multisystem disease in which the phenotype involves acro-osteolysis, severe osteoporosis, short stature, wormian bones, facial dysmorphism, central neurological abnormalities, cardiovascular defects, and polycystic kidneys. We describe an infant with severe manifestations of HCS in whom congenital glaucoma was a significant early feature, which has not been reported to date. HCS cases reported to date have involved truncating mutations in exon 34 of<jats:italic>NOTCH2<\/jats:italic>upstream the PEST domain that lead to the development of a truncated and stable NOTCH2 protein which upregluates notch signaling. We describe a hitherto undescribed missense mutation that is predicted to be pathogenic, with functional characterization remaining to be performed. Serpentine fibula-polycystic kidney syndrome (SFPKS) is allelic to HCS and commonly associated with missense<jats:italic>NOTCH2<\/jats:italic>mutations. Our patient provides new ophthalmological manifestations of HCS and provides insight into the potential role of notch signaling in the anterior chamber development.<\/jats:p>","DOI":"10.1155\/2018\/2508345","type":"journal-article","created":{"date-parts":[[2018,10,21]],"date-time":"2018-10-21T23:30:54Z","timestamp":1540164654000},"page":"1-4","source":"Crossref","is-referenced-by-count":2,"title":["Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome"],"prefix":"10.1155","volume":"2018","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7125-4839","authenticated-orcid":true,"given":"L.","family":"Swan","sequence":"first","affiliation":[{"name":"Department of Paediatrics, The Wesley Hospital, Brisbane, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Gole","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, The Lady Cilento Children\u2019s Hospital, Brisbane, Australia"},{"name":"The School of Medicine, University of Queensland, Brisbane, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Sabesan","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, The Townsville General Hospital, Townsville, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Cardinal","sequence":"additional","affiliation":[{"name":"Cardinal Bioresearch, Brisbane, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6303-6471","authenticated-orcid":true,"given":"D.","family":"Coman","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, The Wesley Hospital, Brisbane, Australia"},{"name":"The School of Medicine, University of Queensland, Brisbane, Australia"},{"name":"Department of Metabolic Medicine, The Lady Cilento Children\u2019s Hospital, Brisbane, Australia"},{"name":"The School of Medicine, Griffith University, Gold Coast, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.779"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.778"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21546"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0200-y"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010515)100:4<292::AID-AJMG1308>3.0.CO;2-4"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(76)80989-4"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1007\/BF00389701"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1002\/bjs.1800640117"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1097\/00041327-199803000-00015"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1007\/BF01957530"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.125"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35772"},{"issue":"9","key":"13","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3941\/jrcr.v8i9.1833","volume":"8","year":"2014","journal-title":"Journal of Radiology Case Reports"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21563"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1007\/s11914-016-0311-6"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1111\/ceo.12152"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1218145110"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1055\/s-0035-1545781"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2018\/2508345.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2018\/2508345.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2018\/2508345.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T06:39:23Z","timestamp":1693982363000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/crig\/2018\/2508345\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,21]]},"references-count":18,"alternative-id":["2508345","2508345"],"URL":"https:\/\/doi.org\/10.1155\/2018\/2508345","relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"type":"print","value":"2090-6544"},{"type":"electronic","value":"2090-6552"}],"subject":[],"published":{"date-parts":[[2018,10,21]]}}}