Two missense mutations of EGR2 R359W and GJB1 V136A in a CMT disease family

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Neurogenetics. 2005 Jun 10

Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-

Marie-Tooth disease family.

Chung KW, Sunwoo IN, Kim SM, Park KD, Kim WK, Kim TS, Koo H, Cho M,

Lee J, Choi BO.

Department of Biological Science, Kongju National University, Kongju,

South Korea.

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.