A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome

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Xie, Hua
Li, Xiaoyan
Peng, Jiping
Chen, Qian
Gao, ZhiJie
Song, Xiaozhen
Li, WeiYu
Xiao, Jianqiu
Li, Caihua
Zhang, Ting
Zhong, Jianmin
Chen, Xiaoli
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https://doi.org/10.1038/srep44271Metadata
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Xie, H., X. Li, J. Peng, Q. Chen, Z. Gao, X. Song, W. Li, et al. 2017. “A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome.” Scientific Reports 7 (1): 44271. doi:10.1038/srep44271. http://dx.doi.org/10.1038/srep44271.Abstract
Cockayne syndrome is an autosomal recessive disorder principally characterized by postnatal growth failure and progressive neurological dysfunction, due primarily to mutations in ERCC6 and ERCC8. Here, we report our diagnostic experience for two patients in a Chinese family suspected on clinical grounds to have Cockayne syndrome. Using multiple molecular techniques, including whole exome sequencing, array comparative genomic hybridization and quantitative polymerase chain reaction, we identified compound heterozygosity for a maternal splicing variant (chr5:60195556, NM_000082:c.618-2A > G) and a paternal complex deletion/inversion/deletion rearrangement removing exon 4 of ERCC8, confirming the suspected pathogenesis in these two subjects. Microhomology (TAA and AGCT) at the breakpoints indicated that microhomology-mediated FoSTeS events were involved in this complex ERCC8 rearrangement. This diagnostic experience illustrates the value of high-throughput genomic technologies combined with detailed phenotypic assessment in clinical genetic diagnosis.Other Sources
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363064/pdf/Terms of Use
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