{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T16:00:18Z","timestamp":1791043218214,"version":"4.1.0"},"reference-count":46,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,4,28]],"date-time":"2003-04-28T00:00:00Z","timestamp":1051488000000},"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":[[2003,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a 59\u2010year\u2010old male (patient A059) with moderate to severe mental retardation (MR) and a pericentric inversion of the X\u2010chromosome: inv(X)(p21.1;q22.1). He had short stature, pectus excavatum, general muscle wasting, and facial dysmorphism. Until now, no other patients with similar clinical features have been described in the literature. Molecular analysis of both breakpoints led to the identification of a novel \u201cNuclear RNA export factor\u201d (<jats:italic>NXF<\/jats:italic>) gene cluster on Xq22.1. Within this cluster, the <jats:italic>NXF5<\/jats:italic> gene was interrupted with subsequent loss of gene expression. Hence, mutation analysis of the <jats:italic>NXF5<\/jats:italic> and its neighboring homologue, the <jats:italic>NXF2<\/jats:italic> gene was performed in 45 men with various forms of syndromic X\u2010linked MR (XLMR) and in 70 patients with nonspecific XLMR. In the <jats:italic>NXF5<\/jats:italic> gene four nucleotide changes: one intronic, two silent, and one missense (K23E), were identified. In the <jats:italic>NXF2<\/jats:italic> gene two changes (one intronic and one silent) were found. Although none of these changes were causative mutations, we propose that <jats:italic>NXF5<\/jats:italic> is a good candidate gene for this syndromic form of XLMR, given the suspected role of NXF proteins is within mRNA export\/transport in neurons. Therefore, mutation screening of the NXF gene family in phenotypically identical patients is recommended. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20195","type":"journal-article","created":{"date-parts":[[2003,5,30]],"date-time":"2003-05-30T10:04:53Z","timestamp":1054289093000},"page":"367-374","source":"Crossref","is-referenced-by-count":21,"title":["Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the <i>NXF5<\/i> Gene"],"prefix":"10.1002","volume":"119A","author":[{"given":"Suzanna G.M.","family":"Frints","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Jun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Pierre","family":"Fryns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koen","family":"Devriendt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rudi","family":"Teulingkx","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lut Van den","family":"Berghe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernice De","family":"Vos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Borghgraef","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamel","family":"Chelly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent Des","family":"Portes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans Van","family":"Bokhoven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben","family":"Hamel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans\u2010Hilger","family":"Ropers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"Kalscheuer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Raynaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Moraine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Marynen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy","family":"Froyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,4,28]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"69A","article-title":"Fertility in a patient with 46,del(X)(q21\u2010q24)","volume":"33","author":"Allderdice PW","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410330519"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1355838200991994"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.6.5.404"},{"key":"e_1_2_6_6_1","article-title":"Assessment of adaptive areas. 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