How to cite this article: Macaya D, Katsanis SH, Hefferon TW, Audlin S, Mendelsohn NJ, Roggenbuck J, Cutting GR. 2009. A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon. Am J Med Genet Part A 149A:1624–1627.
A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon†
Article first published online: 1 JUL 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 8, pages 1624–1627, August 2009
How to Cite
Macaya, D., Katsanis, S.H., Hefferon, T.W., Audlin, S., Mendelsohn, N.J., Roggenbuck, J. and Cutting, G.R. (2009), A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon. Am. J. Med. Genet., 149A: 1624–1627. doi: 10.1002/ajmg.a.32834
- Issue published online: 23 JUL 2009
- Article first published online: 1 JUL 2009
- Manuscript Accepted: 25 FEB 2009
- Manuscript Received: 26 SEP 2008
Additional supporting information may be found in the online version of this article.
|AJMA_32834_sm_SupplFig2.pdf||30K||Fig. 2: Exon 2 rare variant 122C/T demonstrates two transcripts are present in the patient. Sequencing peak levels at nucleotide 122 show a 40% reduction in the C:T ratio compared with the genomic DNA. This is consistent with the hypothesis that partial nonsense mediated RNA decay (NMRD) occurs due to a premature termination codon in the transcript lacking exon 22. Note that phrase of the two variants could not be determined.|
|AJMA_32834_sm_SupplFig3.pdf||36K||Fig. 3: Electropherogram of patient TCOF1 cDNA, showing precise skipping of exon 22.|
|AJMA_32834_sm_SupplTab1.pdf||13K||Table I: Primers for the amplification of TCOF1 exons, including universal M13 tags for sequencing (underlined).|
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