Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly

Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly

Abstract 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 patho...

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Bibliographic Details
Main Authors: Ye Wang, Xueli Wu, Liu Du, Ju Zheng, Songqing Deng, Xin Bi, Qiuyan Chen, Hongning Xie, Claude Férec, David N. Cooper, Yanmin Luo, Qun Fang, Jian-Min Chen
Format: Article
Language:English
Published: BMC 2018-01-01
Series:Human Genomics
Subjects:
Genetic counselling
Microcephalic osteodysplastic primordial dwarfism type 1
MOPD1
Noncoding RNU4ATAC gene
Prenatal diagnosis
RNA secondary structure
Online Access:http://link.springer.com/article/10.1186/s40246-018-0135-9

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http://link.springer.com/article/10.1186/s40246-018-0135-9

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