{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:14:01Z","timestamp":1760782441566},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,8,7]],"date-time":"2002-08-07T00:00:00Z","timestamp":1028678400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The <jats:italic>TM4SF2<\/jats:italic> gene (localized at Xp11.4 between the loci DXS564 and DXS556) has been found to be mutated in one MRX family. In order to define the corresponding behavioral phenotype, global IQ and specific cognitive skills were assessed in seven males and three females of this family, independent of subject status. Mental retardation (MR) was mild in three patients and moderate in three others. Despite the broad variability of severity of MR, a cognitive profile specific to the MR in this family was documented. It was characterized by language disorder that was more marked in the articulatory component and spatial\/verbal short\u2010term memory dissociation with larger mnemonic span for spatial than for verbal cues. Linkage analysis was then performed on the basis of the cognitively determined status. Recombinations were observed with the loci DXS556 at Xp11.4 and DXS441 at Xq13.2 (maximum LOD score\u2009=\u20092.23 at \u03b8\u2009=\u20090 for ALAS2). This localization region does not include the <jats:italic>TM4SF2<\/jats:italic> gene that has been found mutated in both patients with MR and in one non\u2010MR male subject of this family. The present results suggest two main hypotheses. First, <jats:italic>TM4SF2<\/jats:italic> gene mutation could be involved in MR in this family, therefore representing accentuated intra familial phenotypic variability. Second, the structural particularity detected in the <jats:italic>TM4SF2<\/jats:italic> gene might reflect a rare polymorphism rather than a pathogenic mutation, with the gene responsible for MR in this family being therefore more likely to be searched for in the pericentromeric region of the X chromosome. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10564","type":"journal-article","created":{"date-parts":[[2002,10,11]],"date-time":"2002-10-11T22:29:21Z","timestamp":1034375361000},"page":"400-404","source":"Crossref","is-referenced-by-count":11,"title":["<i>TM4SF2<\/i> gene involvement reconsidered in an XLMR family after neuropsychological assessment"],"prefix":"10.1002","volume":"112","author":[{"given":"Marie","family":"Gomot","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Ronce","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Dessay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ramzi","family":"Zemni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u2010Dominique","family":"Ayrault","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Pierre","family":"Moizard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annie","family":"Nivelon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone","family":"Gilgenkrantz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julliette","family":"Dourlens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Des Portes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jamel","family":"Chelly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claude","family":"Moraine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,8,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"e_1_2_6_3_1","first-page":"32","article-title":"Mental retardation in South Carolina: II, causation","volume":"15","author":"Anderson G","year":"1996","journal-title":"Proc Greenwood Genet Center"},{"key":"e_1_2_6_4_1","volume-title":"Manual for the use of the Columbia Mental Maturity Scale","author":"Burgemeister BB","year":"1954"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.9.941"},{"key":"e_1_2_6_6_1","volume-title":"Boston Diagnostic Aphasia Examination","author":"Goodglass H","year":"1983"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070407"},{"key":"e_1_2_6_8_1","first-page":"482","article-title":"Multilocus linkage analysis in humans: Detection of linkage analysis in humans; 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