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Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family

Authors
 K. W. Chung  ;  I. N. Sunwoo  ;  S. M. Kim  ;  K. D. Park  ;  W.-K. Kim  ;  T. S. Kim  ;  H. Koo  ;  M. Cho  ;  J. Lee  ;  B. O. Choi 
Citation
 NEUROGENETICS, Vol.6(3) : 159-163, 2005 
Journal Title
NEUROGENETICS
ISSN
 1364-6745 
Issue Date
2005
MeSH
Age of Onset ; Amino Acid Substitution ; Charcot-Marie-Tooth Disease/genetics* ; Charcot-Marie-Tooth Disease/pathology ; Child ; Connexins/genetics* ; Early Growth Response Protein 2/genetics* ; Female ; Humans ; Male ; Middle Aged ; Polymorphism ; Single Nucleotide
Keywords
Charcot–Marie–Tooth disease ; EGR2 ; GJB1 ; Gene ; Mutation
Abstract
During mutational analysis of Charcot–Marie–Tooth (CMT) causative genes, we identified a CMT family with two missense mutations in different genes. A R359W mutation in EGR2 was shared by the affected daughter (proband) and her father. In addition, she had a V136A mutation in GJB1, which was determined to be a de novo mutation. The daughter with two different gene mutations showed more severe clinical, electrophysiological and histopathological phenotypes than her father who had only the EGR2 mutation. We suggest that these phenotypic differences between the proband and her father may have been caused by an altered effect of the genetic modifier in EGR2, or by the additive effect of the EGR2 and GJB1 mutations.
Full Text
http://link.springer.com/article/10.1007%2Fs10048-005-0217-4
DOI
10.1007/s10048-005-0217-4
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
Yonsei Authors
Kim, Seung Min(김승민) ORCID logo https://orcid.org/0000-0002-4384-9640
Kim, Tai Seung(김태승)
Sunwoo, Il Nam(선우일남)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/147668
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