PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus–Merzbacher disease in a girl
Article first published online: 16 MAR 2012
© 2012 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd
Volume 83, Issue 2, pages 169–174, February 2013
How to Cite
Fonseca, A., Bonaldi, A., Costa, S., Freitas, M., Kok, F. and Vianna-Morgante, A. (2013), PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus–Merzbacher disease in a girl. Clinical Genetics, 83: 169–174. doi: 10.1111/j.1399-0004.2012.01854.x
- Issue published online: 7 JAN 2013
- Article first published online: 16 MAR 2012
- Accepted manuscript online: 9 FEB 2012 07:18PM EST
- Received 5 February 2012, revised and accepted for publication 7 February 2012
The following Supporting information is available for this article:
Fig. S1. X-inactivation analysis after 5-BrdU incorporation, in the t(X;22) carrier. The normal X chromosome was late replicating (inactive) in 60 metaphases from peripheral blood lymphocytes analyzed.
Fig. S2. X-inactivation assay based on the methylation status of the AR locus in peripheral blood cells: The alleles were amplified from genomic DNA, undigested (graphs A, C, E) and digested by the methylation-sensitive enzyme HpaII (graphs B, D, F). After digestion, only the methylated alleles, on the inactive X, are amplified. The inactivation ratio (82:18) shows that the same allele is inactive in 82% of the cells. The comparison of the patient's alleles with those of her parents shows that the maternally inherited X chromosome is predominantly inactivated.
Table S1. BAC and PAC clones used as FISH probes for the mapping of chromosomes X and 22 breakpoint regions.
Additional Supporting information may be found in the online version of this article.
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