期刊
SCIENTIFIC REPORTS
卷 7, 期 -, 页码 -出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/srep44271
关键词
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资金
- Capital Health Research and Development of Special [2014-2-1131]
- National Nature Science Fund [31671310, 81370708, 81401207]
- Beijing Natural Science Foundation [7162029]
- Beijing nova program interdisciplinary collaborative project [xxjc201717]
- NIH [P01GM061354]
- CAMS Initiative for Innovative Medicine [CAMS-I2M]
- advanced Personnel Training Program of Beijing Municipal Health Bureau
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.
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