{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T17:26:45Z","timestamp":1793899605518,"version":"4.8.0"},"reference-count":38,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2016,12,27]]},"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Cohesinopathies are rare neurodevelopmental disorders arising from a dysfunction in the cohesin pathway, which enables chromosome segregation and regulates gene transcription. So far, eight genes from this pathway have been reported in human disease. <jats:italic>STAG1<\/jats:italic> belongs to the STAG subunit of the core cohesin complex, along with five other subunits. This work aimed to identify the phenotype ascribed to <jats:italic>STAG1<\/jats:italic> mutations.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Among patients referred for intellectual disability (ID) in genetics departments worldwide, array-comparative genomic hybridisation (CGH), gene panel, whole-exome sequencing or whole-genome sequencing were performed following the local diagnostic standards.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>A mutation in <jats:italic>STAG1<\/jats:italic> was identified in 17 individuals from 16 families, 9 males and 8 females aged 2\u201333\u2005years. Four individuals harboured a small microdeletion encompassing <jats:italic>STAG1<\/jats:italic>; three individuals from two families had an intragenic <jats:italic>STAG1<\/jats:italic> deletion. Six deletions were identified by array-CGH, one by whole-exome sequencing. Whole-exome sequencing found de novo heterozygous missense or frameshift <jats:italic>STAG1<\/jats:italic> variants in eight patients, a panel of genes involved in ID identified a missense and a frameshift variant in two individuals. The 17 patients shared common facial features, with wide mouth and deep-set eyes. Four individuals had mild microcephaly, seven had epilepsy.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>We report an international series of 17 individuals from 16 families presenting with syndromic unspecific ID that could be attributed to a <jats:italic>STAG1<\/jats:italic> deletion or point mutation. This first series reporting the phenotype ascribed to mutation in <jats:italic>STAG1<\/jats:italic> highlights the importance of data sharing in the field of rare disorders.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmedgenet-2016-104468","type":"journal-article","created":{"date-parts":[[2017,1,24]],"date-time":"2017-01-24T21:20:29Z","timestamp":1485292829000},"page":"479-488","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":64,"title":["<i>STAG1<\/i> mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability"],"prefix":"10.1136","volume":"54","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2193-8685","authenticated-orcid":false,"given":"Daphn\u00e9","family":"Lehalle","sequence":"first","affiliation":[{"name":"F\u00e9d\u00e9ration Hospitalo-Universitaire M\u00e9decine Translationnelle et Anomalies du D\u00e9veloppement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France"},{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs de l'Interr\u00e9gion Est, Centre Hospitalier Universitaire Dijon, Dijon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Laure","family":"Mosca-Boidron","sequence":"additional","affiliation":[{"name":"Laboratoire de Cytog\u00e9n\u00e9tique, Centre Hospitalier Universitaire Dijon, Dijon, France"},{"name":"Equipe GAD, EA4271, Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Bourgogne Franche-Comt\u00e9, Dijon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amber","family":"Begtrup","sequence":"additional","affiliation":[{"name":"GeneDx, 207 Perry Parkway, Gaithersburg, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Odile","family":"Boute-Benejean","sequence":"additional","affiliation":[{"name":"Service de g\u00e9n\u00e9tique clinique, CHU Lille, Lille, 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