{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T02:02:16Z","timestamp":1791511336926,"version":"4.3.4"},"reference-count":30,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,12,22]],"date-time":"2015-12-22T00:00:00Z","timestamp":1450742400000},"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":[[2016,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report 13 new individuals with duplications in Xp11.22\u2010p11.23. The index family has one male and two female members in three generations with mild\u2010severe intellectual disability (ID), speech delay, dysmorphic features, early puberty, constipation, and\/or hand and foot abnormalities. Affected individuals were found to have two small duplications in Xp11.22 at nucleotide position (hg19) 50,112,063\u201350,456,458\u2009bp (distal) and 53,160,114\u201353,713,154\u2009bp (proximal). Collectively, these two regions include 14 RefSeq genes, prompting collection of a larger cohort of patients, in an attempt to delineate critical genes associated with the observed phenotype. In total, we have collected data on nine individuals with duplications overlapping the distal duplication region containing <jats:italic>SHROOM4<\/jats:italic> and <jats:italic>DGKK<\/jats:italic> and eight individuals overlapping the proximal region including <jats:italic>HUWE1<\/jats:italic>. Duplications of <jats:italic>HUWE1<\/jats:italic> have been previously associated with non\u2010syndromic ID. Our data, with previously published reports, suggest that duplications involving <jats:italic>SHROOM4<\/jats:italic> and <jats:italic>DGKK<\/jats:italic> may represent a new syndromic X\u2010linked ID critical region associated with mild to severe ID, speech delay +\/\u2212 dysarthria, attention deficit disorder, precocious puberty, constipation, and motor delay. We frequently observed foot abnormalities, 5th finger clinodactyly, tapering fingers, constipation, and exercise intolerance in patients with duplications of these two genes. Regarding duplications including the proximal region, our observations agree with previous studies, which have found associations with intellectual disability. In addition, expressive language delay, failure to thrive, motor delay, and 5th finger clinodactyly were also frequently observed in patients with the proximal duplication. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37519","type":"journal-article","created":{"date-parts":[[2015,12,22]],"date-time":"2015-12-22T13:59:53Z","timestamp":1450792793000},"page":"967-977","source":"Crossref","is-referenced-by-count":13,"title":["Genotype\u2013phenotype characterization in 13 individuals with chromosome Xp11.22 duplications"],"prefix":"10.1002","volume":"170","author":[{"given":"Sarah E.","family":"Grams","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Kaiser Permanente San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bob","family":"Argiropoulos","sequence":"additional","affiliation":[{"name":"Alberta Children's Hospital Research Institute for Child and Maternal Health Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Lines","sequence":"additional","affiliation":[{"name":"Department of Genetics Children's Hospital of Eastern Ontario Ottawa Ontario Canada"},{"name":"Department of Pediatrics University of Ottawa Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pranesh","family":"Chakraborty","sequence":"additional","affiliation":[{"name":"Department of Genetics Children's Hospital of Eastern Ontario Ottawa Ontario Canada"},{"name":"Department of Pediatrics University of Ottawa Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Mcgowan\u2010Jordan","sequence":"additional","affiliation":[{"name":"Department of Genetics Children's Hospital of Eastern Ontario Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael T.","family":"Geraghty","sequence":"additional","affiliation":[{"name":"Department of Genetics Children's Hospital of Eastern Ontario Ottawa Ontario Canada"},{"name":"Department of Pediatrics University of Ottawa Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marilyn","family":"Tsang","sequence":"additional","affiliation":[{"name":"Department of Genetics Sutter Memorial Hospital Sacramento California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marthand","family":"Eswara","sequence":"additional","affiliation":[{"name":"Department of Genetics Sutter Memorial Hospital Sacramento California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamer","family":"Tezcan","sequence":"additional","affiliation":[{"name":"Department of Genetics Kaiser Permanente Sacramento California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly L.","family":"Adams","sequence":"additional","affiliation":[{"name":"Department of Genetics Kaiser Permanente Sacramento California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leesa","family":"Linck","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kaiser Permanente Portland Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Himes","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kaiser Permanente Portland Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dana","family":"Kostiner","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kaiser Permanente Portland Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dina J.","family":"Zand","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Children's National Medical Center Washington DC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Stalker","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Florida Gainesville Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel J.","family":"Driscoll","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Florida Gainesville Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taosheng","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Children's Hospital of Orange County Orange California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A.","family":"Rosenfeld","sequence":"additional","affiliation":[{"name":"Signature Genomic Laboratories, Perkin Elmer, Inc. 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