PMID- 10502832
OWN - NLM
STAT- MEDLINE
DCOM- 19991007
LR  - 20061115
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 14
IP  - 4
DP  - 1999 Oct
TI  - A novel mutation (D305V) in the early growth response 2 gene is associated with
      severe Charcot-Marie-Tooth type 1 disease.
PG  - 353-4
AB  - Hereditary motor and sensory neuropathies (HMSN) comprises a wide clinical
      spectrum of related disorders with defects in peripheral nerve myelination.
      Charcot-Marie-Tooth type 1 (CMT1) is the most common form and is usually a mild
      disease with onset in the first or second decade; however there is a
      interfamilial and intrafamilial clinical variation, ranging from asymptomatic
      expression to severe muscular weakness and atrophy. Recently point mutations in
      the early growth response 2 gene (EGR2/Krox-20) have been associated with
      hereditary myelinopathies. We investigated for mutations at the EGR2 gene a
      patient with severe CMT1 phenotype. Direct sequencing of EGR2 gene showed a
      heterozygous A T transversion at nucleotide 1064 that predicts an Asp305Val
      substitution within the first zinc-finger domain. The finding of a novel EGR2
      mutation associated with a different phenotype confirms that peripheral
      neuropathies represent a continuum spectrum of related disorders due to an
      underlying defect in myelination.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Bellone, E
AU  - Bellone E
AD  - Department of Oncology, Biology and Genetics, University of Genova, Genova; Italy
FAU - Di Maria, E
AU  - Di Maria E
FAU - Soriani, S
AU  - Soriani S
FAU - Varese, A
AU  - Varese A
FAU - Doria, L L
AU  - Doria LL
FAU - Ajmar, F
AU  - Ajmar F
FAU - Mandich, P
AU  - Mandich P
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (EGR2 protein, human)
RN  - 0 (Early Growth Response Protein 2)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Amino Acid Substitution
MH  - Charcot-Marie-Tooth Disease/*genetics
MH  - Child
MH  - Chromosomes, Human, Pair 17
MH  - DNA-Binding Proteins/*genetics
MH  - Early Growth Response Protein 2
MH  - Electrophoresis, Polyacrylamide Gel
MH  - Female
MH  - Humans
MH  - Point Mutation
MH  - Polymorphism, Single-Stranded Conformational
MH  - Transcription Factors/*genetics
MH  - Zinc Fingers/genetics
EDAT- 1999/09/30 00:00
MHDA- 1999/09/30 00:01
CRDT- 1999/09/30 00:00
PHST- 1999/09/30 00:00 [pubmed]
PHST- 1999/09/30 00:01 [medline]
PHST- 1999/09/30 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU17>3.0.CO;2-4 [pii]
AID - 10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU17>3.0.CO;2-4 [doi]
PST - ppublish
SO  - Hum Mutat. 1999 Oct;14(4):353-4. doi:
      10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU17>3.0.CO;2-4.