Charcot-Marie-Tooth disease: a gene-dosage effect.
A broad spectrum of inherited neuropathy has been traced to three myelin genes, yet in the two most common disorders, there is no mutated gene. Instead, a gene has an extra or missing copy, as part of a 1.5-megabase DNA duplication or deletion. Eventually, duplications may emerge as a large fraction of all mutations. The discoveries have implications even for acquired disorders--including carpal tunnel syndrome.
Lupski
J R
JR
Medical Scientist Training Program, Baylor College of Medicine, Houston, USA.
D002349:Carpal Tunnel Syndrome / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D003434:Crossing Over, Genetic; D017353:Gene Deletion; D006801:Humans; D005810:Multigene Family