Charcot-Marie-Tooth disease

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Eur J Hum Genet. 2009 Mar 11.

Charcot-Marie-Tooth disease.

Szigeti K, Lupski JR.

[1] 1Department of Neurology, Baylor College of Medicine, Houston, TX, USA [2]

2Department of Molecular and Human Genetics, Baylor College of Medicine, Texas

Children Hospital, Houston, TX, USA.

Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of genetic disorders

presenting with the phenotype of a chronic progressive neuropathy affecting both

the motor and sensory nerves. During the last decade over two dozen genes have

been identified in which mutations cause CMT. The disease illustrates a

multitude of genetic principles, including diverse mutational mechanisms from

point mutations to copy number variation (CNV), allelic heterogeneity,

age-dependent penetrance and variable expressivity. Population based studies

have determined the contributions of the various genes to disease burden

enabling evidence-based approaches to genetic testing.