title: Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.
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.
authors.affiliation: Department of Biological Science, Kongju National University, Kongju, South Korea.
authors.forename: K W
authors.initials: KW
authors.lastname: Chung
authors.forename: I N
authors.initials: IN
authors.lastname: Sunwoo
authors.forename: S M
authors.initials: SM
authors.lastname: Kim
authors.forename: K D
authors.initials: KD
authors.lastname: Park
authors.forename: W-K
authors.initials: WK
authors.lastname: Kim
authors.forename: T S
authors.initials: TS
authors.lastname: Kim
authors.forename: H
authors.initials: H
authors.lastname: Koo
authors.forename: M
authors.initials: M
authors.lastname: Cho
authors.forename: J
authors.initials: J
authors.lastname: Lee
authors.forename: B O
authors.initials: BO
authors.lastname: Choi
mesh_terms: D017668:Age of Onset; D019943:Amino Acid Substitution; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology; D002648:Child; D017630:Connexins / Q000235:genetics*; D051767:Early Growth Response Protein 2 / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D051767:Early Growth Response Protein 2; D000097002:Gap Junction beta-1 Protein; C497326:EGR2 protein, human