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Charcot-Marie-Tooth Project

Image source: Benefros at en.wikipedia via Wikimedia Commons

The real promise of genomics will not be realized until individual patients enjoy improved medical outcomes due to the understanding that genome sequencing can bring to their treatment. At the BCM-HGSC we are working together with Jim Lupski and other BCM collaborators to demonstrate that this promise can be a reality with current DNA sequencing technology.

Sequencing to Solve Genetic Disease

Our current focus is on Charcot-Marie-Tooth (CMT) disease, an inherited peripheral neuropathy with both demyelinating (CMT type 1, CMT1) and axonal (CMT2) forms, distinguished by electrophysiologic and/or neuropathologic studies. CMT has been used as a model disease to describe genetic heterogeneity, to posit the relation of hereditary pattern to clinical severity, and to investigate the relative importance of principal and modifying genes in determining human diseases. It’s role as a model for genetic disease makes it the ideal starting point for these early studies in medical genomics.

Currently we have sequenced the whole genome of one CMT patient, and are progressing to sequence additional samples within that patient’s family, as well as identifying other patients that may benefit from these early experiments.

Additional Resources

Learn more about Charcot-Marie-Tooth disease

Related Publications

Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis., Pehlivan, Davut, Akdemir Zeynep Coban, Karaca Ender, Bayram Yavuz, Jhangiani Shalini, Yildiz Edibe Pembegul, Muzny Donna, Uluc Kayihan, Gibbs Richard A., Elcioglu Nursel, et al. , Human genetics, 2015 Apr 17, (2015) Abstract
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy., Gonzaga-Jauregui, Claudia, Harel Tamar, Gambin Tomasz, Kousi Maria, Griffin Laurie B., Francescatto Ludmila, Ozes Burcak, Karaca Ender, Jhangiani Shalini N., Bainbridge Matthew N., et al. , Cell reports, 2015 Aug 18, Volume 12, Issue 7, p.1169-83, (2015) Abstract
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome., Yuan, Bo, Harel Tamar, Gu Shen, Liu Pengfei, Burglen Lydie, Chantot-Bastaraud Sandra, Gelowani Violet, Beck Christine R., Carvalho Claudia M. B., Cheung Sau Wai, et al. , American journal of human genetics, 2015 Nov 5, Volume 97, Issue 5, p.691-707, (2015) Abstract
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy., Pehlivan, Davut, Beck Christine R., Okamoto Yuji, Harel Tamar, Akdemir Zeynep H. C., Jhangiani Shalini N., Withers Marjorie A., Goksungur Meryem Tuba, Carvalho Claudia M. B., Czesnik Dirk, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2015 Sep 17, (2015) Abstract
Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication., Liu, Pengfei, Gelowani Violet, Zhang Feng, Drory Vivian E., Ben-Shachar Shay, Roney Erin, Medeiros Adam C., Moore Rebecca J., Divincenzo Christina, Burnette William B., et al. , American journal of human genetics, 2014 Mar 6, Volume 94, Issue 3, p.462-9, (2014) Abstract
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D., Okamoto, Yuji, Goksungur Meryem Tuba, Pehlivan Davut, Beck Christine R., Gonzaga-Jauregui Claudia, Muzny Donna M., Atik Mehmed M., Carvalho Claudia M. B., Matur Zeliha, Bayraktar Serife, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2013 Oct 17, (2013) Abstract
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy., Lupski, James R., Reid Jeffrey G., Gonzaga-Jauregui Claudia, Rio Deiros David, Chen David C. Y., Nazareth Lynne, Bainbridge Matthew, Dinh Huyen, Jing Chyn, Wheeler David A., et al. , The New England journal of medicine, 2010 Apr 1, Volume 362, Issue 13, p.1181-91, (2010) Abstract
The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs., Reiter, L. T., Murakami T., Koeuth T., Gibbs R. A., and Lupski J. R. , Human molecular genetics, 1997 Sep, Volume 6, Issue 9, p.1595-603, (1997) Abstract
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element., Reiter, L. T., Murakami T., Koeuth T., Pentao L., Muzny D. M., Gibbs R. A., and Lupski J. R. , Nature genetics, 1996 Mar, Volume 12, Issue 3, p.288-97, (1996) Abstract
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