ArticleScientific reports2017
A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 14 citations in OpenAlex.
- Clinical and genetic analysis ofFrontiers in genetics · 2025Article
- A rare variation of ERCC8 gene cause Cockayne syndrome in a Chinese family.Frontiers in genetics · 2025Article
- A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8.Human genome variation · 2024Article
- Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis.Scientific reports · 2024Article
- Preimplantation genetic testing for Cockayne syndrome with a novel ERCC6 variant in a Chinese family.Frontiers in genetics · 2024Article
- EDIR: exome database of interspersed repeats.Bioinformatics (Oxford, England) · 2023Article
- Article
- Two heterozygous mutations in theThe Journal of international medical research · 2020Article
- ERCC6L promotes cell growth and invasion in human colorectal cancer.Oncology letters · 2019Article
- Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.Scientific reports · 2017Article
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Authors and funding
13 authors at 6 institutions in 2 countries.
Funding
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.
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