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Publication Detail
X inactivation in females with X-linked Charcot-Marie-Tooth disease.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Journal Article
  • Authors:
    Murphy SM, Ovens R, Polke J, Siskind CE, LaurĂ  M, Bull K, Ramdharry G, Houlden H, Murphy RPJ, Shy ME, Reilly MM
  • Publication date:
    07/2012
  • Pagination:
    617, 621
  • Journal:
    Neuromuscul Disord
  • Volume:
    22
  • Issue:
    7
  • Status:
    Published
  • Country:
    England
  • PII:
    S0960-8966(12)00078-8
  • Language:
    eng
  • Keywords:
    Adolescent, Adult, Aged, Charcot-Marie-Tooth Disease, Chromosomes, Human, X, Family Health, Female, Gene Frequency, Genetic Diseases, X-Linked, Humans, Male, Middle Aged, Mutation, X Chromosome Inactivation, Young Adult
Abstract
X-linked Charcot-Marie-Tooth disease (CMT1X) is the second most common inherited neuropathy, caused by mutations in gap junction beta-1 (GJB1). Males have a uniformly moderately severe phenotype while females have a variable phenotype, suggested to be due to X inactivation. We aimed to assess X inactivation pattern in females with CMT1X and correlate this with phenotype using the CMT examination score to determine whether the X inactivation pattern accounted for the variable phenotype in females with CMT1X. We determined X inactivation pattern in 67 females with CMT1X and 24 controls using the androgen receptor assay. We were able to determine which X chromosome carried the GJB1 mutation in 30 females. There was no difference in X inactivation pattern between patients and controls. In addition, there was no correlation between X inactivation pattern in blood and phenotype. A possible explanation for these findings is that the X inactivation pattern in Schwann cells rather than in blood may explain the variable phenotype in females with CMT1X.
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Department of Neuromuscular Diseases
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Department of Neuromuscular Diseases
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