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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
49
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pubmed:dateCreated |
2010-9-16
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pubmed:abstractText |
Autism is a common neurodevelopmental disorder with a complex mode of inheritance. It is one of the most highly heritable of the complex disorders, although the underlying genetic factors remain largely unknown. Here, we report mutations in the X-chromosome PTCHD1 (patched-related) gene in seven families with autism spectrum disorder (ASD) and in three families with intellectual disability. A 167-kilobase microdeletion spanning exon 1 was found in two brothers, one with ASD and the other with a learning disability and ASD features; a 90-kilobase microdeletion spanning the entire gene was found in three males with intellectual disability in a second family. In 900 probands with ASD and 208 male probands with intellectual disability, we identified seven different missense changes (in eight male probands) that were inherited from unaffected mothers and not found in controls. Two of the ASD individuals with missense changes also carried a de novo deletion at another ASD susceptibility locus (DPYD and DPP6), suggesting complex genetic contributions. In additional males with ASD, we identified deletions in the 5' flanking region of PTCHD1 that disrupted a complex noncoding RNA and potential regulatory elements; equivalent changes were not found in male control individuals. Thus, our systematic screen of PTCHD1 and its 5' flanking regions suggests that this locus is involved in ~1% of individuals with ASD and intellectual disability.
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pubmed:grant |
http://linkedlifedata.com/resource/pubmed/grant/,
http://linkedlifedata.com/resource/pubmed/grant/HD35465,
http://linkedlifedata.com/resource/pubmed/grant/P01 CA089392-08,
http://linkedlifedata.com/resource/pubmed/grant/P50 HD055751,
http://linkedlifedata.com/resource/pubmed/grant/P50 HD055751-03,
http://linkedlifedata.com/resource/pubmed/grant/R01 DA013423-05,
http://linkedlifedata.com/resource/pubmed/grant/R01 DA019963-02,
http://linkedlifedata.com/resource/pubmed/grant/R01 DA019963-03,
http://linkedlifedata.com/resource/pubmed/grant/U01 HG004422-01,
http://linkedlifedata.com/resource/pubmed/grant/U01 HG004422-02,
http://linkedlifedata.com/resource/pubmed/grant/U19 HD035465-060005
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1946-6242
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pubmed:author |
pubmed-author:BattagliaAgatinoA,
pubmed-author:BradyAngela FAF,
pubmed-author:BrysonSusan ESE,
pubmed-author:CarsonAndrew RAR,
pubmed-author:ChudleyAlbert EAE,
pubmed-author:CookEdwin HEHJr,
pubmed-author:CrosbieJenniferJ,
pubmed-author:DawsonGeraldineG,
pubmed-author:DrmicIreneI,
pubmed-author:EstesAnnette MAM,
pubmed-author:FernandezBridgetB,
pubmed-author:FiebigAndreasA,
pubmed-author:FrankeAndreA,
pubmed-author:GallagherLouiseL,
pubmed-author:GauthierJulieJ,
pubmed-author:GeczJozefJ,
pubmed-author:GianakopoulosPeter JPJ,
pubmed-author:GuterStephen JSJ,
pubmed-author:HoldenJeanette JJJ,
pubmed-author:HuiChi-ChungCC,
pubmed-author:HutchisonTerryT,
pubmed-author:JengLindaL,
pubmed-author:LewisSuzanne M ESM,
pubmed-author:LionelAnath CAC,
pubmed-author:LiuXudongX,
pubmed-author:Lucy RaymondFF,
pubmed-author:MaestriniElenaE,
pubmed-author:MannM RMR,
pubmed-author:MarshallChristian RCR,
pubmed-author:McPhersonRuthR,
pubmed-author:MonacoAnthony PAP,
pubmed-author:MunsonJeffreyJ,
pubmed-author:NoakesCarolynC,
pubmed-author:NoorAbdulA,
pubmed-author:Orlic-MilacicMarijaM,
pubmed-author:PagnamentaAlistair TAT,
pubmed-author:PintoDalilaD,
pubmed-author:PitonAmelieA,
pubmed-author:Rajcan-SeparovicEvicaE,
pubmed-author:RobertsRobertR,
pubmed-author:RobertsWendyW,
pubmed-author:RohsTTJr,
pubmed-author:RouleauGuy AGA,
pubmed-author:SatoDaisukeD,
pubmed-author:SchacharRussell JRJ,
pubmed-author:SchellenbergGerard DGD,
pubmed-author:SchererStephen WSW,
pubmed-author:SchreiberStefanS,
pubmed-author:SchwartzCharles ECE,
pubmed-author:SenmanLiliL,
pubmed-author:StewartAlexandre F RAF,
pubmed-author:StrattonMichael RMR,
pubmed-author:SzatmariPeterP,
pubmed-author:VincentJohn BJB,
pubmed-author:WhibleyAnnabelA,
pubmed-author:ZhangXiaoyunX,
pubmed-author:ZwaigenbaumLonnieL
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pubmed:issnType |
Electronic
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pubmed:day |
15
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pubmed:volume |
2
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
49ra68
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
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