Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

J R Lupski; C A Wise; A Kuwano; L Pentao; J T Parke; D G Glaze; D H Ledbetter; F Greenberg; P I Patel

doi:10.1038/ng0492-29

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

Nat Genet. 1992 Apr;1(1):29-33. doi: 10.1038/ng0492-29.

Authors

J R Lupski¹, C A Wise, A Kuwano, L Pentao, J T Parke, D G Glaze, D H Ledbetter, F Greenberg, P I Patel

Affiliation

¹ Institute for Molecular Genetics, Texas Children's Hospital Baylor College of Medicine, Houston 77030.

PMID: 1301995
DOI: 10.1038/ng0492-29

Abstract

Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy in humans, characterized electrophysiologically by decreased nerve conduction velocities (NCVs). CMT1A is associated with a large submicroscopic DNA duplication in proximal 17p. In this report we demonstrate that a patient with a cytogenetically visible duplication, dup(17)(p11.2p12), has decreased NCV. Molecular analysis demonstrated this patient was duplicated for all the DNA markers duplicated in CMT1A as well as markers both proximal and distal to the CMT1A duplication. These data support the hypothesis that the CMT1A phenotype can result from a gene dosage effect.

Publication types

Case Reports
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

MeSH terms

Charcot-Marie-Tooth Disease / classification
Charcot-Marie-Tooth Disease / genetics*
Charcot-Marie-Tooth Disease / physiopathology
Child, Preschool
Chromosomes, Human, Pair 17
DNA / genetics
DNA / isolation & purification
Female
Humans
In Situ Hybridization, Fluorescence
Male
Multigene Family
Neural Conduction
Pedigree
Phenotype

Substances

DNA