{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T14:54:24Z","timestamp":1753887264751,"version":"3.41.2"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,1,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_crpm-2024-0018_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Childhood visual impairment due to congenital malformation leads to severe handicaps and lifelong consequences for the affected child. Congenital anophthalmia remains a rare condition marked by a child born with an empty eye socket. The embryonic plant of the eye occurs approximately on day 22 of intrauterine development and ends within the first trimester of pregnancy. Mutations in the <jats:italic>RAX<\/jats:italic> gene located on chromosome 18 (# 601881) cause a spectrum of head malformations, ranging from isolated microphthalmia\/anophthalmia with cleft lip and palate to complex brain malformations.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_crpm-2024-0018_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>Here, we present a child\u2019s case diagnosed with bilateral anophthalmia at 33\u00a0weeks of gestation. The newborn was delivered vaginally with a <jats:italic>RAX<\/jats:italic>-gene-linked syndrome. Besides craniofacial malformations (bilateral anophthalmia, craniofacial hypoplasia, bilateral cleft lip), the female child had severe endocrine dysfunction (congenital hypopituitarism and diabetes insipidus) postnatal that required specialised monitoring and clinical management. Our case study reports a novel homozygous autosomal recessive non-sense mutation (c.106G&gt;T; p.Glu36Ter) of the <jats:italic>RAX<\/jats:italic> gene. This is the first description of this pathogenic gene variant in the literature.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_crpm-2024-0018_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Early and precise sonography is crucial in detecting these conditions on time to prepare postpartum care and avoid delays in optimal clinical treatment for the affected child. This case report aims to raise the scientific community\u2019s awareness about this rare genetic syndrome, showing an individualised two-year follow-up program that could help guide physicians and future parents of affected children.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/crpm-2024-0018","type":"journal-article","created":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T05:22:00Z","timestamp":1726118520000},"source":"Crossref","is-referenced-by-count":0,"title":["Novel homozygous mutation in the human <i>RAX<\/i> homeobox gene in a patient with bilateral anophthalmia and severe endocrine dysfunction\u00a0\u2013 a case report and literature review"],"prefix":"10.1515","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6390-0143","authenticated-orcid":false,"given":"Yasmin H.A.","family":"El-Nahry","sequence":"first","affiliation":[{"name":"Department of Obstetrics , Charit\u00e9\u00a0\u2013 Universit\u00e4tsmedizin Berlin , Berlin , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor","family":"Bardinet","sequence":"additional","affiliation":[{"name":"Department of Neonatalogy , Charit\u00e9\u00a0\u2013 Universit\u00e4tsmedizin Berlin , Berlin , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christoph","family":"B\u00fchrer","sequence":"additional","affiliation":[{"name":"Department of Neonatalogy , Charit\u00e9\u00a0\u2013 Universit\u00e4tsmedizin Berlin , Berlin , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfgang","family":"Henrich","sequence":"additional","affiliation":[{"name":"Department of Obstetrics , Charit\u00e9\u00a0\u2013 Universit\u00e4tsmedizin Berlin , Berlin , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2024,9,12]]},"reference":[{"key":"2024091205203774784_j_crpm-2024-0018_ref_001","doi-asserted-by":"crossref","unstructured":"Mathers, PH, Grinberg, A, Mahon, KA, Jamrich, M. The Rx homeobox gene is essential for vertebrate eye development. Nature 1997;387:603\u20137. https:\/\/doi.org\/10.1038\/42475.","DOI":"10.1038\/42475"},{"key":"2024091205203774784_j_crpm-2024-0018_ref_002","doi-asserted-by":"crossref","unstructured":"Fantes, J, Ragge, NK, Lynch, SA, McGill, NI, Collin, JR, Howard-Peebles, PN, et al.. Mutations in SOX2 cause anophthalmia. Nat Genet 2003;33:461\u20133. https:\/\/doi.org\/10.1038\/ng1120.","DOI":"10.1038\/ng1120"},{"key":"2024091205203774784_j_crpm-2024-0018_ref_003","doi-asserted-by":"crossref","unstructured":"Ragge, NK, Lorenz, B, Schneider, A, Bushby, K, de Sanctis, L, de Sanctis, U, et al.. SOX2 anophthalmia syndrome. Am J Med Genet A 2005;135:1\u20137. discussion 8. https:\/\/doi.org\/10.1002\/ajmg.a.30642.","DOI":"10.1002\/ajmg.a.30642"},{"key":"2024091205203774784_j_crpm-2024-0018_ref_004","doi-asserted-by":"crossref","unstructured":"Danno, H, Michiue, T, Hitachi, K, Yukita, A, Ishiura, S, Asashima, M. Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate RAX expression. Proc Natl Acad Sci U S A 2008;105:5408\u201313. https:\/\/doi.org\/10.1073\/pnas.0710954105.","DOI":"10.1073\/pnas.0710954105"},{"key":"2024091205203774784_j_crpm-2024-0018_ref_005","doi-asserted-by":"crossref","unstructured":"Dateki, S, Fukami, M, Sato, N, Muroya, K, Adachi, M, Ogata, T. OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. J Clin Endocrinol Metab 2008;93:3697\u2013702. https:\/\/doi.org\/10.1210\/jc.2008-0720.","DOI":"10.1210\/jc.2008-0720"},{"key":"2024091205203774784_j_crpm-2024-0018_ref_006","doi-asserted-by":"crossref","unstructured":"Voronina, VA, Kozhemyakina, EA, O\u2019Kernick, CM, Kahn, ND, Wenger, SL, Linberg, JV, et al.. Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. Hum Mol Genet 2004;13:315\u201322. https:\/\/doi.org\/10.1093\/hmg\/ddh025.","DOI":"10.1093\/hmg\/ddh025"},{"key":"2024091205203774784_j_crpm-2024-0018_ref_007","doi-asserted-by":"crossref","unstructured":"Lequeux, L, Rio, M, Vigouroux, A, Titeux, M, Etchevers, H, Malecaze, F, et al.. Confirmation of RAX gene involvement in human anophthalmia. Clin Genet 2008;74:392\u20135. https:\/\/doi.org\/10.1111\/j.1399-0004.2008.01078.x.","DOI":"10.1111\/j.1399-0004.2008.01078.x"},{"key":"2024091205203774784_j_crpm-2024-0018_ref_008","unstructured":"Abouzeid, H, Youssef, MA, Bayoumi, N, ElShakankiri, N, Marzouk, I, Hauser, P, et al.. RAX and anophthalmia in humans: evidence of brain anomalies. Mol Vis 2012;18:1449\u201356."},{"key":"2024091205203774784_j_crpm-2024-0018_ref_009","doi-asserted-by":"crossref","unstructured":"Chassaing, N, Causse, A, Vigouroux, A, Delahaye, A, Alessandri, JL, Boespflug-Tanguy, O, et al.. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia\/microphthalmia. Clin Genet 2014;86:326\u201334. https:\/\/doi.org\/10.1111\/cge.12275.","DOI":"10.1111\/cge.12275"},{"key":"2024091205203774784_j_crpm-2024-0018_ref_010","doi-asserted-by":"crossref","unstructured":"Brachet, C, Kozhemyakina, EA, Boros, E, Heinrichs, C, Balikova, I, Soblet, J, et al.. Truncating RAX mutations: anophthalmia, hypopituitarism, diabetes insipidus, and cleft palate in mice and men. J Clin Endocrinol Metab 2019;104:2925\u201330. https:\/\/doi.org\/10.1210\/jc.2018-02316.","DOI":"10.1210\/jc.2018-02316"}],"container-title":["Case Reports in Perinatal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/crpm-2024-0018\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/crpm-2024-0018\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T05:22:06Z","timestamp":1726118526000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/crpm-2024-0018\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,1]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,9,12]]},"published-print":{"date-parts":[[2024,1,29]]}},"alternative-id":["10.1515\/crpm-2024-0018"],"URL":"https:\/\/doi.org\/10.1515\/crpm-2024-0018","relation":{},"ISSN":["2192-8959"],"issn-type":[{"type":"electronic","value":"2192-8959"}],"subject":[],"published":{"date-parts":[[2024,1,1]]},"article-number":"20240018"}}