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

James R. Lupski, Carol A. Wise, Akira Kuwano, Liu Pentao, Julie T. Parke, Daniel G. Glaze, David H. Ledbetter, Frank Greenberg, Pragna I. Patel

Research output: Contribution to journalArticle

221 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)29-33
Number of pages5
JournalNature Genetics
Volume1
Issue number1
StatePublished - Apr 1992

Fingerprint

Charcot-Marie-Tooth Disease
Gene Dosage
Neural Conduction
Genetic Markers
Phenotype
DNA

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Lupski, J. R., Wise, C. A., Kuwano, A., Pentao, L., Parke, J. T., Glaze, D. G., ... Patel, P. I. (1992). Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nature Genetics, 1(1), 29-33.

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. / Lupski, James R.; Wise, Carol A.; Kuwano, Akira; Pentao, Liu; Parke, Julie T.; Glaze, Daniel G.; Ledbetter, David H.; Greenberg, Frank; Patel, Pragna I.

In: Nature Genetics, Vol. 1, No. 1, 04.1992, p. 29-33.

Research output: Contribution to journalArticle

Lupski, JR, Wise, CA, Kuwano, A, Pentao, L, Parke, JT, Glaze, DG, Ledbetter, DH, Greenberg, F & Patel, PI 1992, 'Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A', Nature Genetics, vol. 1, no. 1, pp. 29-33.
Lupski JR, Wise CA, Kuwano A, Pentao L, Parke JT, Glaze DG et al. Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nature Genetics. 1992 Apr;1(1):29-33.
Lupski, James R. ; Wise, Carol A. ; Kuwano, Akira ; Pentao, Liu ; Parke, Julie T. ; Glaze, Daniel G. ; Ledbetter, David H. ; Greenberg, Frank ; Patel, Pragna I. / Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. In: Nature Genetics. 1992 ; Vol. 1, No. 1. pp. 29-33.
@article{43f9e2beb673491a8398b4a879516679,
title = "Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A",
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.",
author = "Lupski, {James R.} and Wise, {Carol A.} and Akira Kuwano and Liu Pentao and Parke, {Julie T.} and Glaze, {Daniel G.} and Ledbetter, {David H.} and Frank Greenberg and Patel, {Pragna I.}",
year = "1992",
month = "4",
language = "English (US)",
volume = "1",
pages = "29--33",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "1",

}

TY - JOUR

T1 - Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

AU - Lupski, James R.

AU - Wise, Carol A.

AU - Kuwano, Akira

AU - Pentao, Liu

AU - Parke, Julie T.

AU - Glaze, Daniel G.

AU - Ledbetter, David H.

AU - Greenberg, Frank

AU - Patel, Pragna I.

PY - 1992/4

Y1 - 1992/4

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0026849499&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026849499&partnerID=8YFLogxK

M3 - Article

C2 - 1301995

AN - SCOPUS:0026849499

VL - 1

SP - 29

EP - 33

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 1

ER -