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Article: Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

TitleAbsence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia
Authors
Issue Date2006
PublisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Citation
American Journal Of Human Genetics, 2006, v. 79 n. 5, p. 965-972 How to Cite?
AbstractMutations in FOXP2 cause developmental verbal dyspraxia (DVD), but only a few cases have been described. We characterize 13 patients with DVD-5 with hemizygous paternal deletions spanning the FOXP2 gene, 1 with a translocation interrupting FOXP2, and the remaining 7 with maternal uniparental disomy of chromosome 7 (UPD7), who were also given a diagnosis of Silver-Russell Syndrome (SRS). Of these individuals with DVD, all 12 for whom parental DNA was available showed absence of a paternal copy of FOXP2. Five other individuals with deletions of paternally inherited FOXP2 but with incomplete clinical information or phenotypes too complex to properly assess are also described. Four of the patients with DVD also meet criteria for autism spectrum disorder. Individuals with paternal UPD7 or with partial maternal UPD7 or deletion starting downstream of FOXP2 do not have DVD. Using quantitative real-time polymerase chain reaction, we show the maternally inherited FOXP2 to be comparatively underexpressed. Our results indicate that absence of paternal FOXP2 is the cause of DVD in patients with SRS with maternal UPD7. The data also point to a role for differential parent-of-origin expression of FOXP2 in human speech development. © 2006 by The American Society of Human Genetics. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/45215
ISSN
2015 Impact Factor: 10.794
2015 SCImago Journal Rankings: 8.769
PubMed Central ID
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorFeuk, Len_HK
dc.contributor.authorKalervo, Aen_HK
dc.contributor.authorLipsanenNyman, Men_HK
dc.contributor.authorSkaug, Jen_HK
dc.contributor.authorNakabayashi, Ken_HK
dc.contributor.authorFinucane, Ben_HK
dc.contributor.authorHartung, Den_HK
dc.contributor.authorInnes, Men_HK
dc.contributor.authorKerem, Ben_HK
dc.contributor.authorNowaczyk, MJen_HK
dc.contributor.authorRivlin, Jen_HK
dc.contributor.authorRoberts, Wen_HK
dc.contributor.authorSenman, Len_HK
dc.contributor.authorSummers, Aen_HK
dc.contributor.authorSzatmari, Pen_HK
dc.contributor.authorWong, Ven_HK
dc.contributor.authorVincent, JBen_HK
dc.contributor.authorZeesman, Sen_HK
dc.contributor.authorOsborne, LRen_HK
dc.contributor.authorCardy, JOen_HK
dc.contributor.authorKere, Jen_HK
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorHannulaJouppi, Ken_HK
dc.date.accessioned2007-10-30T06:20:05Z-
dc.date.available2007-10-30T06:20:05Z-
dc.date.issued2006en_HK
dc.identifier.citationAmerican Journal Of Human Genetics, 2006, v. 79 n. 5, p. 965-972en_HK
dc.identifier.issn0002-9297en_HK
dc.identifier.urihttp://hdl.handle.net/10722/45215-
dc.description.abstractMutations in FOXP2 cause developmental verbal dyspraxia (DVD), but only a few cases have been described. We characterize 13 patients with DVD-5 with hemizygous paternal deletions spanning the FOXP2 gene, 1 with a translocation interrupting FOXP2, and the remaining 7 with maternal uniparental disomy of chromosome 7 (UPD7), who were also given a diagnosis of Silver-Russell Syndrome (SRS). Of these individuals with DVD, all 12 for whom parental DNA was available showed absence of a paternal copy of FOXP2. Five other individuals with deletions of paternally inherited FOXP2 but with incomplete clinical information or phenotypes too complex to properly assess are also described. Four of the patients with DVD also meet criteria for autism spectrum disorder. Individuals with paternal UPD7 or with partial maternal UPD7 or deletion starting downstream of FOXP2 do not have DVD. Using quantitative real-time polymerase chain reaction, we show the maternally inherited FOXP2 to be comparatively underexpressed. Our results indicate that absence of paternal FOXP2 is the cause of DVD in patients with SRS with maternal UPD7. The data also point to a role for differential parent-of-origin expression of FOXP2 in human speech development. © 2006 by The American Society of Human Genetics. All rights reserved.en_HK
dc.format.extent367615 bytes-
dc.format.extent3620 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypetext/plain-
dc.languageengen_HK
dc.publisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/en_HK
dc.relation.ispartofAmerican Journal of Human Geneticsen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.rightsAmerican Journal of Human Genetics. Copyright © University of Chicago Press.en_HK
dc.subject.meshApraxias - geneticsen_HK
dc.subject.meshForkhead Transcription Factors - geneticsen_HK
dc.subject.meshChromosomes, Human, Pair 7 - geneticsen_HK
dc.subject.meshFetal Growth Retardation - geneticsen_HK
dc.subject.meshMolecular Sequence Dataen_HK
dc.titleAbsence of a paternally inherited FOXP2 gene in developmental verbal dyspraxiaen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0002-9297&volume=79&issue=5&spage=965&epage=972&date=2006&atitle=Absence+of+a+paternally+inherited+FOXP2+gene+in+developmental+verbal+dyspraxiaen_HK
dc.identifier.emailWong, V:vcnwong@hku.hken_HK
dc.identifier.authorityWong, V=rp00334en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.doi10.1086/508902en_HK
dc.identifier.pmid17033973-
dc.identifier.pmcidPMC1698557-
dc.identifier.scopuseid_2-s2.0-33751113031en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33751113031&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume79en_HK
dc.identifier.issue5en_HK
dc.identifier.spage965en_HK
dc.identifier.epage972en_HK
dc.identifier.isiWOS:000241667400018-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridFeuk, L=6603142376en_HK
dc.identifier.scopusauthoridKalervo, A=15065342600en_HK
dc.identifier.scopusauthoridLipsanenNyman, M=6601982742en_HK
dc.identifier.scopusauthoridSkaug, J=6603258009en_HK
dc.identifier.scopusauthoridNakabayashi, K=7101927819en_HK
dc.identifier.scopusauthoridFinucane, B=7007013944en_HK
dc.identifier.scopusauthoridHartung, D=36779081200en_HK
dc.identifier.scopusauthoridInnes, M=7006028491en_HK
dc.identifier.scopusauthoridKerem, B=35376353800en_HK
dc.identifier.scopusauthoridNowaczyk, MJ=7006802352en_HK
dc.identifier.scopusauthoridRivlin, J=6701821687en_HK
dc.identifier.scopusauthoridRoberts, W=7403316556en_HK
dc.identifier.scopusauthoridSenman, L=12775958300en_HK
dc.identifier.scopusauthoridSummers, A=7103024535en_HK
dc.identifier.scopusauthoridSzatmari, P=7006673362en_HK
dc.identifier.scopusauthoridWong, V=7202525632en_HK
dc.identifier.scopusauthoridVincent, JB=7403123176en_HK
dc.identifier.scopusauthoridZeesman, S=6602585451en_HK
dc.identifier.scopusauthoridOsborne, LR=35369973100en_HK
dc.identifier.scopusauthoridCardy, JO=8291534900en_HK
dc.identifier.scopusauthoridKere, J=7005922099en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK
dc.identifier.scopusauthoridHannulaJouppi, K=6506127528en_HK
dc.identifier.citeulike915262-

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