{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T07:02:14Z","timestamp":1791356534830,"version":"4.3.1"},"reference-count":25,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Open"],"accepted":{"date-parts":[[2016,4,8]]},"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>X linked intellectual disability (XLID) syndromes account for a substantial number of males with ID. Much progress has been made in identifying the genetic cause in many of the syndromes described 20\u201340\u2005years ago. Next generation sequencing (NGS) has contributed to the rapid discovery of XLID genes and identifying novel mutations in known XLID genes for many of these syndromes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>2 NGS approaches were employed to identify mutations in X linked genes in families with XLID disorders. 1 involved exome sequencing of genes on the X chromosome using the Agilent SureSelect Human X Chromosome Kit. The second approach was to conduct targeted NGS sequencing of 90 known XLID genes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified the same mutation, a c.12928 G&gt;C transversion in the\n                      <jats:italic>HUWE1<\/jats:italic>\n                      gene, which gives rise to a p.G4310R missense mutation in 2 XLID disorders: Juberg-Marsidi syndrome (JMS) and Brooks syndrome. Although the original families with these disorders were considered separate entities, they indeed overlap clinically. A third family was also found to have a novel\n                      <jats:italic>HUWE1<\/jats:italic>\n                      mutation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      As we identified a\n                      <jats:italic>HUWE1<\/jats:italic>\n                      mutation in an affected male from the original family reported by Juberg and Marsidi, it is evident the syndrome does not result from a mutation in\n                      <jats:italic>ATRX<\/jats:italic>\n                      as reported in the literature. Additionally, our data indicate that JMS and Brooks syndromes are allelic having the same\n                      <jats:italic>HUWE1<\/jats:italic>\n                      mutation.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/bmjopen-2015-009537","type":"journal-article","created":{"date-parts":[[2016,4,29]],"date-time":"2016-04-29T21:54:31Z","timestamp":1461966871000},"page":"e009537","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":50,"title":["HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study"],"prefix":"10.1136","volume":"6","author":[{"given":"Michael J","family":"Friez","sequence":"first","affiliation":[{"name":"Greenwood Genetic Center, Greenwood, South Carolina, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan Sklower","family":"Brooks","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger E","family":"Stevenson","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center, Greenwood, South Carolina, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Field","sequence":"additional","affiliation":[{"name":"Hunter Genetics, Waratah, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica J","family":"Basehore","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center, Greenwood, South Carolina, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lesley C","family":"Ad\u00e8s","sequence":"additional","affiliation":[{"name":"Institute of Endocrinology and Diabetes, The Children's Hospital of Westmead, University of Sydney, Sydney, New South Wales, 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Diabetes, The Children's Hospital of Westmead, University of Sydney, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucy","family":"Murray","sequence":"additional","affiliation":[{"name":"Hunter Genetics, Waratah, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J","family":"Simensen","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center, Greenwood, South Carolina, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying Yzu","family":"Yap","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie A","family":"Shaw","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University of Adelaide, Adelaide, South Australia, 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E","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center, Greenwood, South Carolina, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2016,4,29]]},"reference":[{"key":"2025121514354127000_6.4.e009537.1","doi-asserted-by":"publisher","DOI":"10.1126\/science.252.5009.1097"},{"key":"2025121514354127000_6.4.e009537.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.02.018"},{"key":"2025121514354127000_6.4.e009537.3","doi-asserted-by":"crossref","unstructured":"Stevenson R , Schwartz C , Rogers C . 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