Genetics of CMT-1A and HNPP

The recombination hotspot at chromosome 17p11.2-p12 is linked with two genetic neurological diseases.

During meiosis there may be misalignment and unequal cross-over of the two copies of chromosome 17 due to the presence of two copies of a mariner-like transposable element in this region. The result of misaligned recombination is the production of a chromosomes with:

• two copies of the peripheral myelin protein 22 which causes Charcot-Marie-Tooth type 1A
• no copies of the peripheral myelin protein 22 which results in hereditary neuropathy with liability to pressure palsies

Reference:

• Hartl, DL. (1996). The most unkindest cut of all. Nature Genetics, 12, 227-229.