How to Cite this Article: Huynh MT, Béri-Dexheimer M, Bonnet C, Bronner M, Khan AA, Allou L, Philippe C, Vigneron J, Jonveaux P. 2012. RUNX1T1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability. Am J Med Genet Part A. 158A:1782–1784.
RUNX1T1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability†
Article first published online: 29 MAY 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 7, pages 1782–1784, July 2012
How to Cite
Huynh, M. T., Béri-Dexheimer, M., Bonnet, C., Bronner, M., Khan, A. A., Allou, L., Philippe, C., Vigneron, J. and Jonveaux, P. (2012), RUNX1T1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability. Am. J. Med. Genet., 158A: 1782–1784. doi: 10.1002/ajmg.a.35386
- Issue published online: 18 JUN 2012
- Article first published online: 29 MAY 2012
- Manuscript Accepted: 4 MAR 2012
- Manuscript Received: 29 NOV 2011
- French Ministry of Health
- The “Fondation Jérome Lejeune”
Additional supporting information may be found in the online version of this article.
|ajmg_35386_sm_SupplFig3.tif||1587K||Fig. 3: Confirmation of the apparently de novo deletion spanning exons 3 to 7 using qPCR on genomic DNA from patient (blue bar), her father (green bar), her mother (dark red bar) and a control (bright red bar). GM-E2RUNX (exon 2), GM-E3RUNX (exon 3) and GME7RUNX (exon 7).|
|ajmg_35386_sm_SupplFig4.tif||5858K||Fig. 4: A. RUNX1T1-coding DNA reference sequence of exons 2 and 8 along with the fusion exon2-exon8 transcript sequence. B. Partial cDNA sequence (obtained with reverse exon2-exon8 primers). The junction point is determined by the last G nucleotide of exon 2 corresponding to the last G nucleotide on sequencing result and marked with the yellow color.|
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