{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T17:11:18Z","timestamp":1790269878558,"version":"4.1.0"},"reference-count":7,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2010,12,9]],"date-time":"2010-12-09T00:00:00Z","timestamp":1291852800000},"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":[[2011,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Renpenning syndrome is a well\u2010described X\u2010linked condition associated with multiple congenital anomalies and intellectual disability [OMIM 309500]. Typical signs include microcephaly, dysmorphic features, short stature, small testes, and lean body build. Renpenning syndrome is caused by mutations in the polyglutamine binding protein 1 (<jats:italic>PQBP1<\/jats:italic>) gene. Missense mutations, insertions, deletions, and duplications within the gene have been well\u2010described. We present a 47\u2010year\u2010old male with clinical features resembling Renpenning syndrome. He has moderate intellectual disability, seizures since infancy, short stature, small testes, and dysmorphic features. Of note, our patient is normocephalic. A CT scan at 14 years of age showed cerebral atrophy. He had previously been verbally communicative and had few behavioral issues. Recently, our patient has regressed and has become uncommunicative, displaying little and unclear speech. He now exhibits memory and recognition loss and is uncooperative, aggressive, self\u2010abusive, and incontinent. The reason for his regression within the past 4 years is unclear. SNP microarray analysis (500K) revealed a 4.7\u2009Mb duplication at Xp11.22\u2013p11.23. Multiple ligation probe amplification (MLPA) of the <jats:italic>PQBP1<\/jats:italic> gene contained within this duplicated region confirmed a duplication of the entire <jats:italic>PQBP1<\/jats:italic> gene. Multiple other genes are duplicated within this 4.7\u2009Mb region and may contribute to his phenotype. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33756","type":"journal-article","created":{"date-parts":[[2010,12,9]],"date-time":"2010-12-09T20:21:04Z","timestamp":1291926064000},"page":"141-144","source":"Crossref","is-referenced-by-count":15,"title":["Whole gene duplication of the <i>PQBP1<\/i> gene in syndrome resembling Renpenning"],"prefix":"10.1002","volume":"155","author":[{"given":"Maureen","family":"Flynn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying S.","family":"Zou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aubrey","family":"Milunsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,12,9]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0023-3"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00436.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0343-1"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00308.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/301835"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20021"},{"key":"e_1_2_7_8_1","first-page":"954","article-title":"Familial sex\u2010linked mental retardation","volume":"87","author":"Renpenning HJ","year":"1962","journal-title":"Can Med Assoc J"}],"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.33756","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33756","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T18:20:05Z","timestamp":1697653205000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33756"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,12,9]]},"references-count":7,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,1]]}},"alternative-id":["10.1002\/ajmg.a.33756"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33756","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,12,9]]}}}