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A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder
American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-06, Vol.153B (4), p.960-966
van der Zwaag, Bert
Staal, Wouter G.
Hochstenbach, Ron
Poot, Martin
Spierenburg, Henk A.
de Jonge, Maretha V.
Verbeek, Nienke E.
van 't Slot, Ruben
van Es, Michael A.
Staal, Frank J.
Freitag, Christine M.
Buizer-Voskamp, Jacobine E.
Nelen, Marcel R.
van den Berg, Leonard H.
van Amstel, Hans K. Ploos
van Engeland, Herman
Burbach, J. Peter H.
2010
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
van der Zwaag, Bert
Staal, Wouter G.
Hochstenbach, Ron
Poot, Martin
Spierenburg, Henk A.
de Jonge, Maretha V.
Verbeek, Nienke E.
van 't Slot, Ruben
van Es, Michael A.
Staal, Frank J.
Freitag, Christine M.
Buizer-Voskamp, Jacobine E.
Nelen, Marcel R.
van den Berg, Leonard H.
van Amstel, Hans K. Ploos
van Engeland, Herman
Burbach, J. Peter H.
Titel
A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder
Ist Teil von
American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-06, Vol.153B (4), p.960-966
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2010
Quelle
Wiley Online Library - AutoHoldings Journals
Beschreibungen/Notizen
High resolution genomic copy‐number analysis has shown that inherited and de novo copy‐number variations contribute significantly to autism pathology, and that identification of small chromosomal aberrations related to autism will expedite the discovery of risk genes involved. Here, we report a microduplication of chromosome 15q11.2, spanning only four genes, co‐segregating with autism in a Dutch pedigree, identified by SNP microarray analysis, and independently confirmed by FISH and MLPA analysis. Quantitative RT‐PCR analysis revealed over 70% increase in peripheral blood mRNA levels for the four genes present in the duplicated region in patients, and RNA in situ hybridization on mouse embryonic and adult brain sections revealed that two of the four genes, CYFIP1 and NIPA1, were highly expressed in the developing mouse brain. These findings point towards a contribution of microduplications at chromosome 15q11.2 to autism, and highlight CYFIP1 and NIPA1 as autism risk genes functioning in axonogenesis and synaptogenesis. Thereby, these findings further implicate defects in dosage‐sensitive molecular control of neuronal connectivity in autism. However, the prevalence of this microduplication in patient samples was statistically not significantly different from control samples (0.94% in patients vs. 0.42% controls, P = 0.247), which suggests that our findings should be interpreted with caution and indicates the need for studies that include large numbers of control subjects to ascertain the impact of these changes on a population scale. © 2009 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4841, 1552-485X
eISSN: 1552-485X
DOI: 10.1002/ajmg.b.31055
Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2933514
Format
–
Schlagworte
Animals
,
autism spectrum disorder
,
Autistic Disorder - genetics
,
Case-Control Studies
,
Child
,
Child Development Disorders, Pervasive - genetics
,
Chromosome Aberrations
,
Chromosomes
,
Chromosomes, Human, Pair 2
,
copy-number
,
Female
,
gene expression
,
gene-dosage
,
Genes
,
genetics
,
Humans
,
Mice
,
Nucleic Acid Hybridization - genetics
,
Reverse Transcriptase Polymerase Chain Reaction
,
Risk
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