{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T19:57:41Z","timestamp":1791575861479,"version":"4.3.4"},"reference-count":31,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2008,5,21]],"date-time":"2008-05-21T00:00:00Z","timestamp":1211328000000},"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":[[2008,8]]},"abstract":"<jats:p>We describe two brothers with autistic disorder, intellectual disability (ID) and cleft lip\/palate with a microdeletion of Xp11.22 detected through screening individuals with autism spectrum disorders (ASDs) for microdeletions and duplications using 1\u2010Mb resolution array comparative genomic hybridization. The deletion was confirmed by fluorescence <jats:italic>in situ <\/jats:italic>hybridization\/real\u2010time quantitative polymerase chain reaction (RT\u2010qPCR) and shown to be inherited from their unaffected mother who had skewed (100%) X inactivation of the aberrant chromosome. RT\u2010qPCR characterization of the del(X)(p11.22) region (\u223c53,887,000\u201354,359,000\u2003bp) revealed complete deletion of the plant homeodomain finger protein 8 (<jats:italic>PHF8<\/jats:italic>) gene as well as deletions of the <jats:italic>FAM120C <\/jats:italic>and WNK lysine\u2010deficient protein kinase 3 (<jats:italic>WNK3<\/jats:italic>) genes, for which a definitive phenotype has not been previously characterized. Xp11.2 is a gene\u2010rich region within the critical linkage interval for several neurodevelopmental disorders. Rare interstitial microdeletions of Xp11.22 have been recognized with ID, craniofacial dysmorphism and\/or cleft lip\/palate and truncating mutations of the <jats:italic>PHF8 <\/jats:italic>gene within this region. Despite evidence implicating genes within Xp11.22 with language and cognitive development that could contribute to an ASD phenotype, their involvement with autism has not been systematically evaluated. Population screening of 481 (319 males\/81 females) and 282 X chromosomes (90 males\/96 females) in respective ASD and control cohorts did not identify additional subjects carrying this deletion. Our findings show that in addition to point mutations, a complete deletion of the <jats:italic>PHF8 <\/jats:italic>gene is associated with the X\u2010linked mental retardation Siderius\u2010Hamel syndrome (OMIM 300263) and further suggest that the larger size of the Xp11.22 deletion including genes <jats:italic>FAM120C <\/jats:italic>and <jats:italic>WNK3 <\/jats:italic>may be involved in the pathogenesis of autism.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2008.01028.x","type":"journal-article","created":{"date-parts":[[2009,1,23]],"date-time":"2009-01-23T10:08:46Z","timestamp":1232705326000},"page":"134-144","source":"Crossref","is-referenced-by-count":67,"title":["Autism\u2010associated familial microdeletion of Xp11.22"],"prefix":"10.1111","volume":"74","author":[{"given":"Y","family":"Qiao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Harvard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MJ","family":"Hildebrand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Rajcan\u2010Separovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JJA","family":"Holden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MES","family":"Lewis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,7,9]]},"reference":[{"issue":"10","key":"e_1_2_6_2_2","first-page":"3","article-title":"Epidemiology 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