Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations

Kinga Szigeti; Wojciech Wiszniewski; Gulam Mustafa Saifi; Diane L. Sherman; Norbert Sule; Adekunle M. Adesina; Pedro Mancias; Sozos Ch Papasozomenos; Geoffrey Miller; Laura Keppen; Donna Daentl; Peter J. Brophy; James R. Lupski

doi:10.1007/s10048-007-0094-0

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations

Kinga Szigeti, Wojciech Wiszniewski, Gulam Mustafa Saifi, Diane L. Sherman, Norbert Sule, Adekunle M. Adesina, Pedro Mancias, Sozos Ch Papasozomenos, Geoffrey Miller, Laura Keppen, Donna Daentl, Peter J. Brophy, James R. Lupski

Research output: Contribution to journal › Article › peer-review

42 Scopus citations

Abstract

Mutations in the EGR2 gene cause a spectrum of Charcot-Marie-Tooth disease and related inherited peripheral neuropathies. We ascertained ten consecutive patients with various EGR2 mutations, report a novel de novo mutation, and provide longitudinal clinical data to characterize the natural history of the peripheral neuropathy. We confirmed that respiratory compromise and cranial nerve dysfunction are commonly associated with EGR2 mutations and can be useful in guiding molecular diagnosis. We also contrast morphological studies in the context of the I268N homozygous recessive mutation affecting the NAB repressor binding site and the R359W dominant-negative mutation in the zinc-finger domain.

Original language	English (US)
Pages (from-to)	257-262
Number of pages	6
Journal	Neurogenetics
Volume	8
Issue number	4
DOIs	https://doi.org/10.1007/s10048-007-0094-0
State	Published - Nov 2007
Externally published	Yes

Keywords

CMT
EGR2
HSMN
Myelin

ASJC Scopus subject areas

Genetics
Genetics(clinical)
Cellular and Molecular Neuroscience

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10.1007/s10048-007-0094-0

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title = "Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations",

abstract = "Mutations in the EGR2 gene cause a spectrum of Charcot-Marie-Tooth disease and related inherited peripheral neuropathies. We ascertained ten consecutive patients with various EGR2 mutations, report a novel de novo mutation, and provide longitudinal clinical data to characterize the natural history of the peripheral neuropathy. We confirmed that respiratory compromise and cranial nerve dysfunction are commonly associated with EGR2 mutations and can be useful in guiding molecular diagnosis. We also contrast morphological studies in the context of the I268N homozygous recessive mutation affecting the NAB repressor binding site and the R359W dominant-negative mutation in the zinc-finger domain.",

keywords = "CMT, EGR2, HSMN, Myelin",

author = "Kinga Szigeti and Wojciech Wiszniewski and Saifi, {Gulam Mustafa} and Sherman, {Diane L.} and Norbert Sule and Adesina, {Adekunle M.} and Pedro Mancias and Papasozomenos, {Sozos Ch} and Geoffrey Miller and Laura Keppen and Donna Daentl and Brophy, {Peter J.} and Lupski, {James R.}",

year = "2007",

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doi = "10.1007/s10048-007-0094-0",

language = "English (US)",

volume = "8",

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journal = "Neurogenetics",

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TY - JOUR

T1 - Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations

AU - Szigeti, Kinga

AU - Wiszniewski, Wojciech

AU - Saifi, Gulam Mustafa

AU - Sherman, Diane L.

AU - Sule, Norbert

AU - Adesina, Adekunle M.

AU - Mancias, Pedro

AU - Papasozomenos, Sozos Ch

AU - Miller, Geoffrey

AU - Keppen, Laura

AU - Daentl, Donna

AU - Brophy, Peter J.

AU - Lupski, James R.

PY - 2007/11

Y1 - 2007/11

N2 - Mutations in the EGR2 gene cause a spectrum of Charcot-Marie-Tooth disease and related inherited peripheral neuropathies. We ascertained ten consecutive patients with various EGR2 mutations, report a novel de novo mutation, and provide longitudinal clinical data to characterize the natural history of the peripheral neuropathy. We confirmed that respiratory compromise and cranial nerve dysfunction are commonly associated with EGR2 mutations and can be useful in guiding molecular diagnosis. We also contrast morphological studies in the context of the I268N homozygous recessive mutation affecting the NAB repressor binding site and the R359W dominant-negative mutation in the zinc-finger domain.

AB - Mutations in the EGR2 gene cause a spectrum of Charcot-Marie-Tooth disease and related inherited peripheral neuropathies. We ascertained ten consecutive patients with various EGR2 mutations, report a novel de novo mutation, and provide longitudinal clinical data to characterize the natural history of the peripheral neuropathy. We confirmed that respiratory compromise and cranial nerve dysfunction are commonly associated with EGR2 mutations and can be useful in guiding molecular diagnosis. We also contrast morphological studies in the context of the I268N homozygous recessive mutation affecting the NAB repressor binding site and the R359W dominant-negative mutation in the zinc-finger domain.

KW - CMT

KW - EGR2

KW - HSMN

KW - Myelin

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SN - 1364-6745

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SP - 257

EP - 262

JO - Neurogenetics

JF - Neurogenetics

IS - 4

ER -

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations

Abstract

Keywords

ASJC Scopus subject areas

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