{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T18:47:59Z","timestamp":1771613279966,"version":"3.50.1"},"reference-count":44,"publisher":"Oxford University Press (OUP)","issue":"17","license":[{"start":{"date-parts":[[2020,8,7]],"date-time":"2020-08-07T00:00:00Z","timestamp":1596758400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Cardiff University School of Psychology Research Internship"},{"name":"Wellcome Trust GW4-CAT Clinical Research Fellowship and Welsh Clinical Academic Track"},{"name":"Health Education and Improvement Wales"},{"name":"Wellcome Trust Clinical Research Fellowship","award":["201171\/Z\/16\/Z"],"award-info":[{"award-number":["201171\/Z\/16\/Z"]}]},{"name":"Medical Research Council Centre for Neuropsychiatric Genetics and Genomics","award":["MR\/L010305\/1"],"award-info":[{"award-number":["MR\/L010305\/1"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,10,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Deletions spanning the STS (steroid sulfatase) gene at Xp22.31 are associated with X-linked ichthyosis, corneal opacities, testicular maldescent, cardiac arrhythmia, and higher rates of developmental and mood disorders\/traits, possibly related to the smaller volume of some basal ganglia structures. The consequences of duplication of the same genomic region have not been systematically assessed in large or adult samples, although evidence from case reports\/series has indicated high rates of developmental phenotypes. We compared multiple measures of physical and mental health, cognition and neuroanatomy in male (n\u2009=\u2009414) and female (n\u2009=\u2009938) carriers of 0.8\u20132.5\u00a0Mb duplications spanning STS, and non-carrier male (n\u2009=\u2009192, 826) and female (n\u2009=\u2009227, 235) controls from the UK Biobank (recruited aged 40\u201369 from the UK general population). Clinical and self-reported diagnoses indicated a higher prevalence of inguinal hernia and mania\/bipolar disorder respectively in male duplication carriers, and a higher prevalence of gastro-oesophageal reflux disease and blistering\/desquamating skin disorder respectively in female duplication carriers; duplication carriers also exhibited reductions in several depression-related measures, and greater happiness. Cognitive function and academic achievement did not differ between comparison groups. Neuroanatomical analysis suggested greater lateral ventricle and putamen volume in duplication carriers. In conclusion, Xp22.31 duplications appear largely benign, but could slightly increase the likelihood of specific phenotypes (although results were only nominally-significant). In contrast to deletions, duplications might protect against depressive symptoms, possibly via higher STS expression\/activity (resulting in elevated endogenous free steroid levels), and through contributing towards an enlarged putamen volume. These results should enable better genetic counselling of individuals with Xp22.31 microduplications.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa174","type":"journal-article","created":{"date-parts":[[2020,7,31]],"date-time":"2020-07-31T11:27:47Z","timestamp":1596194867000},"page":"2872-2881","source":"Crossref","is-referenced-by-count":16,"title":["Medical and neurobehavioural phenotypes in male and female carriers of Xp22.31 duplications in the UK Biobank"],"prefix":"10.1093","volume":"29","author":[{"given":"Samuel J A","family":"Gubb","sequence":"first","affiliation":[{"name":"Division of Psychological Medicine and Clinical Neurosciences and Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff CF24 4HQ, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucija","family":"Brcic","sequence":"additional","affiliation":[{"name":"School of Psychology, Cardiff University, Cardiff CF10 3AT, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jack F G","family":"Underwood","sequence":"additional","affiliation":[{"name":"Division of Psychological Medicine and Clinical Neurosciences and Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff CF24 4HQ, United Kingdom"},{"name":"Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff CF24 4HQ, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimberley M","family":"Kendall","sequence":"additional","affiliation":[{"name":"Division of Psychological Medicine and Clinical Neurosciences and Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff CF24 4HQ, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xavier","family":"Caseras","sequence":"additional","affiliation":[{"name":"Division of Psychological Medicine and Clinical Neurosciences and Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff CF24 4HQ, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George","family":"Kirov","sequence":"additional","affiliation":[{"name":"Division of Psychological Medicine and Clinical Neurosciences and Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff CF24 4HQ, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7714-2440","authenticated-orcid":false,"given":"William","family":"Davies","sequence":"additional","affiliation":[{"name":"Division of Psychological Medicine and Clinical Neurosciences and Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff CF24 4HQ, United Kingdom"},{"name":"School of Psychology, Cardiff University, Cardiff CF10 3AT, United Kingdom"},{"name":"Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff CF24 4HQ, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2020,8,7]]},"reference":[{"key":"2020101402144338800_ref1","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1210\/er.2015-1036","article-title":"The regulation of steroid action by Sulfation and Desulfation","volume":"36","author":"Mueller","year":"2015","journal-title":"Endocr. 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