{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T06:09:01Z","timestamp":1791266941323,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,9,8]],"date-time":"2004-09-08T00:00:00Z","timestamp":1094601600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2004,10]]},"abstract":"<jats:p>Recently, the polyglutamine\u2010binding protein 1 (<jats:italic>PQBP1<\/jats:italic>) gene was found to be mutated in five of 29 families studied with X\u2010linked mental retardation (XLMR) linked to Xp. The reported mutations include duplications or deletions of AG dinucleotides in the fourth coding exon that resulted in shifts of the open reading frame. Three of the five families with mutations in this newly identified <jats:italic>XLMR<\/jats:italic> gene have been reported previously. We characterized the phenotypic and neuropsychological features in the two unpublished families with aberrations in <jats:italic>PQBP1<\/jats:italic> and in a family reported 10\u2003years ago. In total, seven patients diagnosed with aberrations in this gene were examined, including a newly identified patient at 18\u2003months of age. Additionally, the features were compared to those reported in the literature of three other families, comprising MRXS3 (Sutherland\u2013Haan syndrome) MRX55 and MRXS8 (Renpenning syndrome). Characteristics seen in these patients are microcephaly, lean body habitus, short stature, striking facial appearance with long narrow faces, upward slant of the eyes, malar hypoplasia, prognathism, high\u2010arched palate and nasal speech. In addition, small testes and midline defects as anal atresia or imperforate anus, clefting of palate and\/or uvula, iris coloboma and Tetralogy of Fallot are seen in several patients. These observations contribute to the phenotypic knowledge of patients with <jats:italic>PQBP1<\/jats:italic> mutations and make this XLMR syndrome well recognizable to clinicians.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2004.00308.x","type":"journal-article","created":{"date-parts":[[2004,9,8]],"date-time":"2004-09-08T10:34:04Z","timestamp":1094639644000},"page":"318-326","source":"Crossref","is-referenced-by-count":40,"title":["Genotype\u2010phenotype studies in three families with mutations in the polyglutamine\u2010binding protein 1 gene (<i>PQBP1<\/i>)"],"prefix":"10.1111","volume":"66","author":[{"given":"T","family":"Kleefstra","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CE","family":"Franken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"YHJM","family":"Arens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"GJA","family":"Ramakers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HG","family":"Yntema","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"EA","family":"Sistermans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CFCH","family":"Hulsmans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"WN","family":"Nillesen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Van Bokhoven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"BBA","family":"De Vries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"BCJ","family":"Hamel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,9,8]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200603"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(03)00113-6"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1086\/380309"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1264"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1159\/000071603"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/35088558"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/8719"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.8.981"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200836"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.3.348"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg173"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.6.441"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20422"},{"issue":"1","key":"e_1_2_6_15_2","first-page":"11","article-title":"A gene for non\u2010specific X\u2010Linked mental retardation (MRX55) is located in Xp11","volume":"41","author":"Deqaqi S","year":"1998","journal-title":"Ann Genet"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300152"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320510459"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1086\/383205"},{"key":"e_1_2_6_19_2","first-page":"39","volume-title":"DSM\u2010IV, Diagnostic Criteria.","author":"American Psychiatric Association","year":"1994"},{"key":"e_1_2_6_20_2","volume-title":"Wechsler Intelligence Scale for Children\u2010Revised (WISC\u2010R): Handleiding, scoring en normen.","author":"Van Haasen PP","year":"1986"},{"key":"e_1_2_6_21_2","volume-title":"Wechsler Preschool and Primary Scale of Intelligence (WPPSI\u2010R).","author":"Vander Steene G","year":"1997"},{"key":"e_1_2_6_22_2","volume-title":"Snijders\u2010Oomen Niet\u2010verbale Intelligentietest SON\u2010R 21\/2\u20137. 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