Charcot-Marie-Tooth (CMT) disease is named after the three physicians who first reported it in 1886. CMT is a group of genetic diseases that causes muscle weakness and wasting, or atrophy, in the feet, legs, hands, and forearms, as well as diminished sensation in the limbs. CMT disease affects the peripheral nerves-the nerves that travel to the muscles of the limbs and is therefore known as a peripheral neuropathy. Estimated to affect one in 2,500 individuals, it is the most common inherited neurological disorder.
The Tox 1401 students recently went through a 2010 paper where a CMT family was screened by sequencing the genome of a proband (an effected founding individual of a group). In this study the sequence from the proband was compared to reference genome sequence. This analysis which initially started with more than 3 million genetic differences between the proband and the reference genome group ultimately narrowed the genetic difference in this CMT family to the SH3TC2 gene.
If you would like to read more, I am asking the Tox 1401 students to head on over to the OMIM site and give us some background on the SH3TC2 gene product and how mutations in this gene might effect neuronal function.