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DNA hypermethylation and X chromosome inactivation are major determinants of phenotypic variation in women heterozygous for G6PD mutations.

Blood cells, molecules & diseases - 1 Dec 2014

Wang Jin, Xiao Qi-Zhi, Chen You-Ming, Yi Sheng, Liu Dun, Liu Yan-Hui, Zhang Cui-Mei, Wei Xiao-Feng, Zhou Yu-Qiu, Zhong Xing-Ming, Zhao Cun-You, Xiong Fu, Wei Xiang-Cai, Xu Xiang-Min

Abstract excerpt

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked incompletely dominant enzyme deficiency that results from G6PD gene mutations. Women heterozygous for G6PD mutations exhibit variation in the loss of enzyme activity but the cause of this phenotypic variation is unclear. We determined DNA methylation and X-inactivation patterns in 71 G6PD-deficient female heterozygotes and 68 G6PD non-deficient...

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PMID: 24958328
DOI: 10.1016/j.bcmd.2014.06.001

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