Article
Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.
Human genomics - 25 Jan 2018
Wang Ye, Wu Xueli, Du Liu, Zheng Ju, Deng Songqing, Bi Xin, Chen Qiuyan, Xie Hongning, Férec Claude, Cooper David N, Luo Yanmin, Fang Qun, Chen Jian-Min
Abstract excerpt
BACKGROUND: Whole-exome sequencing (WES) over the last few years has been increasingly employed for clinical diagnosis. However, one caveat with its use is that it inevitably fails to detect disease-causative variants that occur within noncoding RNA genes. Our experience in identifying pathogenic variants in the noncoding RNU4ATAC gene, in a Chinese family where two successive foetuses had been affected by severe...
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