Abstract
We present a 31/3-year-old girl with severe Charcot–Marie–Tooth disease type 1 (Dejerine–Sottas disease), who was a compound heterozygote carrying a deletion of the whole peripheral myelin protein 22 (PMP22) and a deletion of exon 5 in the other PMP22 allele. Haplotype analyses and sequence determination revealed a 11.2 kb deletion spanning from intron 4 to 3′-region of PMP22, which was likely generated by nonhomologous end joining. Severely affected patients carrying a PMP22 deletion must be analyzed for the mutations of the other copy of PMP22.
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Acknowledgements
This work was supported by a Grant-in-Aid for Scientific Research from the Ministry of Education, Science, Culture and Sports of Japan and a Grant-in-Aid from the Research of Charcot–Marie–Tooth Disease from the Ministry of Health, Labour and Welfare of Japan.
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Abe, A., Nakamura, K., Kato, M. et al. Compound heterozygous PMP22 deletion mutations causing severe Charcot–Marie–Tooth disease type 1. J Hum Genet 55, 771–773 (2010). https://doi.org/10.1038/jhg.2010.106
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DOI: https://doi.org/10.1038/jhg.2010.106
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