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

Neurogenetics - Tập 6 - Trang 159-163 - 2005
K. W. Chung1, I. N. Sunwoo2, S. M. Kim2, K. D. Park3, W.-K. Kim4, T. S. Kim5, H. Koo6, M. Cho7, J. Lee8, B. O. Choi3
1Department of Biological Science, Kongju National University, Kongju, South Korea
2Department of Neurology, College of Medicine, Yonsei University, Seoul, South Korea
3Department of Neurology and Ewha Medical Research Center, College of Medicine, Ewha Womans University, Seoul, South Korea
4Department of Pharmacology and Ewha Institute of Neuroscience, College of Medicine, Ewha Womans University, Seoul, South Korea
5Department of Pathology, College of Medicine, Yonsei University, Seoul, South Korea
6Department of Pathology, College of Medicine, Ewha Womans University, Seoul, South Korea
7Department of Pathology, Wonju College of Medicine, Yonsei University, Wonju, South Korea
8Department of Neurology, Wonju College of Medicine, Yonsei University, Wonju, South Korea

Tóm tắt

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.

Tài liệu tham khảo

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