Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/313
Título: A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia
Autor: Gilling, M.
Lauritsen, M.B.
Møller, M.
Henriksen, K.F.
Vicente, A.M.
Oliveira, G.
Cintin, C.
Eiberg, H.
Andersen, P.S.
Mors, O.
Rosenberg, T.
Brøndum-Nielsen, K.
Cotterill, R.M.
Lundsteen, C.
Ropers, H.H.
Ullmann, R.
Bache, I.
Tümer, Z.
Tommerup, N.
Palavras-chave: Translocation
Deletion
Autism
Myopia
Array CGH
Chromosome 18
Perturbações do Desenvolvimento Infantil e Saúde Mental
Data: 9-Jan-2008
Editora: Nature Publishing Group
Citação: Eur J Hum Genet. 2008 Mar;16(3):312-9. Epub 2008 Jan 9
Resumo: Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with unknown aetiology. Even though ASDs are suggested to be among the most heritable complex disorders, only a few reproducible mutations leading to susceptibility for ASD have been identified. In an attempt to identify ASD susceptibility genes through chromosome rearrangements, we investigated a female patient with childhood autism and high-grade myopia, and an apparently balanced de novo translocation, t(5;18)(q34;q12.2). Further analyses revealed a 3.2 Mb deletion encompassing 17 genes at the 18q break point and an additional deletion of 1.27 Mb containing two genes on chromosome 4q35. Q-PCR analysis of 14 of the 17 genes deleted on chromosome 18 showed that 11 of these genes were expressed in the brain, suggesting that haploinsufficiency of one or more genes may have contributed to the childhood autism phenotype of the patient. Identification of multiple genetic changes in this patient with childhood autism agrees with the most frequently suggested genetic model of ASDs as complex, polygenic disorders.
Peer review: yes
URI: http://hdl.handle.net/10400.18/313
ISSN: 1018-4813
Versão do Editor: http://www.nature.com/ejhg/journal/v16/n3/full/5201985a.html
Aparece nas colecções:DPSPDNT - Artigos em revistas internacionais

Ficheiros deste registo:
Ficheiro Descrição TamanhoFormato 
A 3.2Mb deletion on 18q12 in a patient with.pdf225,69 kBAdobe PDFVer/Abrir


FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpace
Formato BibTex MendeleyEndnote Degois 

Todos os registos no repositório estão protegidos por leis de copyright, com todos os direitos reservados.