女性 X 连锁遗传性运动感觉神经病中 X 染色体失活。
X inactivation in females with X-linked Charcot-Marie-Tooth disease.
机构信息
MRC Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery and Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
出版信息
Neuromuscul Disord. 2012 Jul;22(7):617-21. doi: 10.1016/j.nmd.2012.02.009. Epub 2012 Apr 6.
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.
X 连锁遗传性神经病（CMT1X）是第二常见的遗传性神经病，由间隙连接β-1（GJB1）基因突变引起。男性具有一致的中度严重表型，而女性具有可变的表型，这被认为是由于 X 染色体失活。我们旨在评估 CMT1X 女性的 X 染色体失活模式，并使用 CMT 检查评分将其与表型相关联，以确定 X 染色体失活模式是否解释了 CMT1X 女性的可变表型。我们使用雄激素受体检测法在 67 名 CMT1X 女性和 24 名对照中确定了 X 染色体失活模式。我们能够在 30 名女性中确定携带 GJB1 突变的 X 染色体。患者和对照组之间的 X 染色体失活模式没有差异。此外，血液中的 X 染色体失活模式与表型之间没有相关性。这些发现的一个可能解释是，施万细胞中的 X 染色体失活模式而不是血液中的 X 染色体失活模式可能解释了 CMT1X 女性的可变表型。
Zotero 插件