DNA deletion associated with hereditary neuropathy with liability to pressure palsies

摘要: Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder that causes episodes of focal demyelinating following minor trauma peripheral nerves. We assign the HNPP locus chromosome 17p11.2 and demonstrate presence a large interstitial deletion associated this in three unrelated pedigrees. De novo documented one pedigree. The deleted region appears uniform all pedigrees includes gene for myelin protein 22 (PMP-22), suggesting underexpression PMP-22 may cause HNPP. spans approximately 1.5 Mb markers are known map within Charcot-Marie-Tooth type 1A (CMT1A) duplication. Furthermore, breakpoints CMT1A same intervals 17p11.2, these genetic disorders be result reciprocal products unequal crossover.