{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T19:21:42Z","timestamp":1792264902537,"version":"4.4.0"},"reference-count":32,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2003,7,25]],"date-time":"2003-07-25T00:00:00Z","timestamp":1059091200000},"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":[[2004,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>Oligophrenin\u20101<\/jats:italic> (<jats:italic>OPHN\u20101<\/jats:italic>) gene disruption is known as responsible for so called \u201cnon\u2010specific\u201d X\u2010linked mental retardation (MR) Billuart et al. [1998: Nature 392:923\u2013926]. In order to search for a possible specific clinical and radiological profile for mutation in the <jats:italic>OPHN\u20101<\/jats:italic> gene, clinical and 3D brain MRI studies were performed in the two families with a known mutation in <jats:italic>OPHN\u20101<\/jats:italic> reported so far: a 19\u2010year\u2010old female with an X;12 balanced translocation encompassing <jats:italic>OPHN\u20101<\/jats:italic>, and four affected males of family MRX60 sharing a frameshift mutation in <jats:italic>OPHN\u20101<\/jats:italic>. Clinical data shared by affected individuals were neonatal hypotonia with motor delay but no obvious ataxia, marked strabismus, early onset complex partial seizures, and moderate to severe MR. Brain MRIs performed in three individuals exhibited a specific vermian dysgenesis including an incomplete sulcation of anterior and posterior vermis with the most prominent defect in lobules VI and VII. In addition, a non\u2010specific cerebral cortico\u2010subcortical atrophy was also observed. These clinical and radiological features suggest a distinct clinico\u2010radiological syndrome. These preliminary data need to be confirmed in other families and will be helpful for further targeted mutation screening of the <jats:italic>OPHN\u20101<\/jats:italic> gene in male patients with similar clinico\u2010radiological features. In addition, <jats:italic>OPHN\u20101<\/jats:italic> inactivation should be considered as a relevant model of developmental vermis disorganization, leading to a better understanding of the possible role of the cerebellum in MR. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20422","type":"journal-article","created":{"date-parts":[[2004,1,16]],"date-time":"2004-01-16T09:00:32Z","timestamp":1074243632000},"page":"364-371","source":"Crossref","is-referenced-by-count":54,"title":["Specific clinical and brain MRI features in mentally retarded patients with mutations in the <i>Oligophrenin\u20101<\/i> gene"],"prefix":"10.1002","volume":"124A","author":[{"given":"Vincent des","family":"Portes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Boddaert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Sacco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvain","family":"Briault","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim","family":"Maincent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Bahi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Gomot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Ronce","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Bursztyn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Adamsbaum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Zilbovicius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamel","family":"Chelly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Moraine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,7,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02012727"},{"key":"e_1_2_6_3_1","volume-title":"DSM\u2010IV, diagnostic and statistical manual of mental disorders","author":"American Psychiatric Association","year":"1994"},{"key":"e_1_2_6_4_1","first-page":"345","volume-title":"Pediatric neuroimaging","author":"Barkovich AJ","year":"2000"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.4.1087"},{"key":"e_1_2_6_6_1","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1159\/000484743","article-title":"Mapping of the X\u2010breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation","volume":"5","author":"Bienvenu T","year":"1997","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/31940"},{"issue":"2","key":"e_1_2_6_8_1","first-page":"195","article-title":"Neuro\u2010cognitive and behavioural aspects in non\u2010specific mental retardation. 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