How to Cite this Article: Ben-Neriah Z, Michaelson-Cohen R, Inbar-Feigenberg M, Nadjari M, Zeligson S, Shaag A, Zenvirt S, Elpeleg O, Levy-Lahad E. 2011. A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD). Am J Med Genet Part A 155: 2801–2806.
Article first published online: 11 OCT 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 11, pages 2801–2806, November 2011
How to Cite
Ben-Neriah, Z., Michaelson-Cohen, R., Inbar-Feigenberg, M., Nadjari, M., Zeligson, S., Shaag, A., Zenvirt, S., Elpeleg, O. and Levy-Lahad, E. (2011), A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD). Am. J. Med. Genet., 155: 2801–2806. doi: 10.1002/ajmg.a.34240
Ziva Ben-Neriah and Rachel Michaelson-Cohen contributed equally to this work.
- Issue published online: 20 OCT 2011
- Article first published online: 11 OCT 2011
- Manuscript Accepted: 7 JUL 2011
- Manuscript Received: 12 MAR 2011
Additional supporting information may be found in the online version of this article.
|AJMA_34240_sm_Suppl-Fig.tif||1257K||Fig. 6: Sequencing of BMPER: a. The homozygous nonsense mutation c.310 C<T encodes a premature stop codon, creating a truncated protein. Patient: upper lane, heterozygous carrier: middle lane, healthy non carrier: lower lane. b. The BMPER Q104X does not result in Nonsense Mediated Decay: The region surrounding the BMPER Q104X mutation was sequenced in genomic DNA and cDNA of a BMPER Q104X Heterozygote. Genomic DNA was extracted from whole blood and cDNA was obtained from a lymphoblastoid cell line. Relative amounts of wild type (C) and mutant (T) alleles are similar in genomic DNA (where the C:T ratio is 1:1) and cDNA, demonstrating allelic expression is approximately equal. Nucleotide and amino acid sequences are indicated above the chromatogram.|
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