{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T20:55:37Z","timestamp":1757451337561,"version":"3.37.3"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T00:00:00Z","timestamp":1722816000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T00:00:00Z","timestamp":1722816000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["GNT2025619","GNT2012250"],"award-info":[{"award-number":["GNT2025619","GNT2012250"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>The <jats:italic>Cut Homeobox 1<\/jats:italic> (<jats:italic>CUX1<\/jats:italic>) gene has been implicated in a number of developmental processes and has recently emerged as an important cause of developmental delay and impaired intellectual development. Individuals with variants in <jats:italic>CUX1<\/jats:italic> have been described with a variety of co-morbidities including variations in sex development (VSD) although these features have not been closely documented.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>The proband is a 14-year-old male who presented with congenital complex hypospadias, neurodevelopmental differences, and subtle dysmorphism. A family history of neurodevelopmental differences and VSD was noted. Microarray testing and whole exome sequencing found the 46,XY proband had a large heterozygous in-frame deletion of exons 4\u201310 of the <jats:italic>CUX1<\/jats:italic> gene.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Our review of the literature has revealed that variants in <jats:italic>CUX1<\/jats:italic> are associated with a range of VSD and suggest this gene should be considered in cases where a VSD is noted at birth, especially if there is a familial history of VSD and\/or neurodevelopmental differences. Further work is required to fully investigate the role and regulation of <jats:italic>CUX1<\/jats:italic> in sex development.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-024-01945-0","type":"journal-article","created":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T08:03:29Z","timestamp":1722845009000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Consider CUX1 variants in children with a variation of sex development: a case report and review of the literature"],"prefix":"10.1186","volume":"17","author":[{"given":"Lynn","family":"Tan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shelley G.","family":"Young","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew H.","family":"Sinclair","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew F.","family":"Hunter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katie L.","family":"Ayers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,8,5]]},"reference":[{"issue":"2","key":"1945_CR1","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1097\/MOH.0000000000000699","volume":"29","author":"MRM Jotte","year":"2022","unstructured":"Jotte MRM, McNerney ME. The significance of CUX1 and chromosome 7 in myeloid malignancies. Curr Opin Hematol. 2022;29(2):92\u2013102.","journal-title":"Curr Opin Hematol"},{"issue":"1\u20132","key":"1945_CR2","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1016\/S0378-1119(97)00243-6","volume":"197","author":"PM Lievens","year":"1997","unstructured":"Lievens PM, Tufarelli C, Donady JJ, Stagg A, Neufeld EJ. CASP, a novel, highly conserved alternative-splicing product of the CDP\/cut\/cux gene, lacks cut-repeat and homeo DNA-binding domains, and interacts with full-length CDP in vitro. Gene. 1997;197(1\u20132):73\u201381.","journal-title":"Gene"},{"issue":"1","key":"1945_CR3","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1016\/j.gene.2012.01.039","volume":"497","author":"L Hulea","year":"2012","unstructured":"Hulea L, Nepveu A. CUX1 transcription factors: from biochemical activities and cell-based assays to mouse models and human diseases. 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The parents\/guardians have signed informed consent for the research and have seen the final manuscript and consented to publication of data within the context of the paper.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"195"}}