X inactivation in females with X-linked Charcot-Marie-Tooth disease

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• 作者：Siné ; ad M. Murphy^a ; ^b ; ^{sinead.murphy@amnch.ie} ; Richard Ovens^c ; James Polke^c ; Carly E. Siskind^d ; Matilde Laurà ; ^a ; Karen Bull^a ; Gita Ramdharry^a ; Henry Houlden^a ; Raymond P.J. Murphy^b ; Michael E. Shy^d ; Mary M. Reilly^a
• 关键词：Charcot&ndash ; Marie&ndash ; Tooth disease ; GJB1 ; Connexin32 ; X inactivation
• 刊名：Neuromuscular Disorders
• 出版年：2012
• 期刊代码：203_09608966
• 类别：med
• 出版时间：July, 2012
• 卷：22
• 期：7
• 页码：617-621
• 文件大小：229 K

摘要

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.