{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T23:07:18Z","timestamp":1790291238844,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2015,4,6]],"date-time":"2015-04-06T00:00:00Z","timestamp":1428278400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,8]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Intellectual disability is a neurodevelopmental disorder of impaired adaptive skills and low intelligence quotient. The overall prevalence is estimated at 2\u20133% in the general population with extreme clinical and genetic heterogeneity, and it has been associated with possibly causative mutations in more than 700 identified genes. In a recent review, among over 100 X\u2010linked intellectual disability causative genes, eight were reported as \u201cawaiting replication.\u201d Exome sequencing in a large family identified a missense mutation in\n                      <jats:italic>RPL10<\/jats:italic>\n                      highly suggestive of X\u2010linked intellectual disability. Herein, we report on the clinical description of four affected males. All patients presented apparent intellectual disability (4\/4), psychomotor delay (4\/4) with syndromic features including amniotic fluid excess (3\/4), microcephaly (2\/4), urogenital anomalies (3\/4), cerebellar syndrome (2\/4), and facial dysmorphism. In the literature, two mutations were reported in three families with affected males presenting with autism. This report confirms the implication of\n                      <jats:italic>RPL10<\/jats:italic>\n                      mutations in neurodevelopmental disorders and extends the associated clinical spectrum from autism to syndromic intellectual disability. \u00a9 2015 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37094","type":"journal-article","created":{"date-parts":[[2015,4,6]],"date-time":"2015-04-06T10:22:56Z","timestamp":1428315776000},"page":"1908-1912","source":"Crossref","is-referenced-by-count":33,"title":["<i>RPL10<\/i>\n                    mutation segregating in a family with X\u2010linked syndromic Intellectual Disability"],"prefix":"10.1002","volume":"167","author":[{"given":"Julien","family":"Thevenon","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique INSERM U781 H\u00f4pital Necker\u2010Enfants Malades Institut Imagine University Sorbonne\u2010Paris\u2010Cit\u00e9 Paris France"},{"name":"FHU\u2010TRANSLAD Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs de l'interr\u00e9gion Est CHU de Dijon Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Michot","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique INSERM U781 H\u00f4pital Necker\u2010Enfants Malades Institut Imagine University Sorbonne\u2010Paris\u2010Cit\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Bole","sequence":"additional","affiliation":[{"name":"Plateforme de bioinformatique de l'Institut Imagine H\u00f4pital Necker Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Nitschke","sequence":"additional","affiliation":[{"name":"Plateforme de bioinformatique de l'Institut Imagine H\u00f4pital Necker Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathilde","family":"Nizon","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital Necker\u2010Enfants Malades APHP Universit\u00e9 Paris Descartes Institut Imagine Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[{"name":"FHU\u2010TRANSLAD Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs de l'interr\u00e9gion Est CHU de Dijon Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique INSERM U781 H\u00f4pital Necker\u2010Enfants Malades Institut Imagine University Sorbonne\u2010Paris\u2010Cit\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislas","family":"Lyonnet","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique INSERM U781 H\u00f4pital Necker\u2010Enfants Malades Institut Imagine University Sorbonne\u2010Paris\u2010Cit\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Paul","family":"Bonnefont","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital Necker\u2010Enfants Malades APHP Universit\u00e9 Paris Descartes Institut Imagine Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent Des","family":"Portes","sequence":"additional","affiliation":[{"name":"Service de Neurologie P\u00e9diatrique CHU Lyon H\u00f4pital Femme M\u00e8re Enfant Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanne","family":"Amiel","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique INSERM U781 H\u00f4pital Necker\u2010Enfants Malades Institut Imagine University Sorbonne\u2010Paris\u2010Cit\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,4,6]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen RC","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-9120(99)00023-5"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20752"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33977"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2014.2015"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-10-7"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.10.023"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.3703"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mp.4001883"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/yea.963"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.femsyr.2004.07.009"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.06.013"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2014.00026"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.889"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.06.006"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/00041444-200506000-00004"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37094","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37094","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T07:01:02Z","timestamp":1696575662000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37094"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,6]]},"references-count":16,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2015,8]]}},"alternative-id":["10.1002\/ajmg.a.37094"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37094","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,6]]}}}