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A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia

2008Journal article Open access
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dc.contributor.authorGilling, M
dc.contributor.authorLauritsen, MB
dc.contributor.authorMøller, M
dc.contributor.authorHenriksen, KF
dc.contributor.authorVicente, A
dc.contributor.authorOliveira, G
dc.contributor.authorCintin, C
dc.contributor.authorEiberg, H
dc.contributor.authorAndersen, PS
dc.contributor.authorMors, O
dc.contributor.authorRosenberg, T
dc.contributor.authorBrøndum-Nielsen, K
dc.contributor.authorCotterill, RM
dc.contributor.authorLundsteen, C
dc.contributor.authorRopers, HH
dc.contributor.authorUllmann, R
dc.contributor.authorBache, I
dc.contributor.authorTümer, Z
dc.contributor.authorTommerup, N
dc.date.accessioned2012-05-21T17:21:23Z
dc.date.available2012-05-21T17:21:23Z
dc.date.issued2008
dc.description.abstractAutism 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.por
dc.identifier.citationEur J Hum Genet. 2008;16(3):312-9.por
dc.identifier.urihttp://hdl.handle.net/10400.4/1382
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherNature Publishing Grouppor
dc.subjectPerturbação Autísticapor
dc.subjectMiopiapor
dc.subjectCromossoma Humano Par 18por
dc.titleA 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopiapor
dc.typejournal article
dspace.entity.typePublication
rcaap.rightsopenAccesspor
rcaap.typearticlepor

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