Familial Skewed X Chromosome Inactivation in Adrenoleukodystrophy Manifesting Heterozygotes from a Chinese Pedigree

@article{Wang2013FamilialSX,
  title={Familial Skewed X Chromosome Inactivation in Adrenoleukodystrophy Manifesting Heterozygotes from a Chinese Pedigree},
  author={Zhihong Wang and Aizhen Yan and Yuxiang Lin and Hai-hua Xie and Chun-yan Zhou and F. Lan},
  journal={PLoS ONE},
  year={2013},
  volume={8}
}
Background X-linked adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative disorder caused by mutations in the ABCD1 gene. Approximately 20% of X-ALD female carriers may develop neurological symptoms. Skewed X chromosome inactivation (XCI) has been proposed to influence the manifestation of symptoms in X-ALD carriers, but data remain conflicting so far. We identified a three generation kindred, with five heterozygous females, including two manifesting carriers. XCI pattern and the ABCD1… Expand
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Skewed X-inactivation is common in the general female population
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