Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies

1 June 1994

journal article
case report
Published by Wiley in Annals of Neurology

Vol. 35 (6) , 704-708
https://doi.org/10.1002/ana.410350611

Abstract

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disease of peripheral nerves, characterized by recurrent focal neuropathies often with an underlying asymptomatic polynuropathy. We report the clinical, electrophysiological, and histopathological findings in three families with HNPP and confirm the presence of a deletion on chromosome 17p11.2, including all the markers known to be duplicated in Charcot‐Marie‐Tooth disease type 1A. This deletion appears to be the underlying molecular deficit in this disease and provides additional evidence for the importance of this locus for peripheral nerve function.

Keywords

This publication has 26 references indexed in Scilit:

Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
Nature Genetics, 1992
The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A
Nature Genetics, 1992
The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A
Nature Genetics, 1992
De-novo mutation in hereditary motor and sensory neuropathy type I
The Lancet, 1992
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A
Nature Genetics, 1992
Trembler mouse carries a point mutation in a myelin gene
Nature, 1992
Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.
Journal of Medical Genetics, 1992
A family with tomaculous neuropathy mimicking Charcot-Marie-Tooth disease
Clinical Neurology and Neurosurgery, 1990