Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome | Semantic Scholar Skip to search formSkip to main content> Semantic Scholar's Logo Search Sign InCreate Free Account You are currently offline. Some features of the site may not work correctly. DOI:10.1159/000345924 Corpus ID: 27161114Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome @article{Xin2012IdentificationOT, title={Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome}, author={B. Xin and H. Wang}, journal={Molecular Syndromology}, year={2012}, volume={3}, pages={288 - 290} } B. Xin, H. Wang Published 2012 Medicine Molecular Syndromology Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by progressive multisystem degeneration and segmental premature aging. Mutations in the DNA repair gene ERCC6 are responsible for the majority of CS cases reported. In this study, we identified 4 patients presenting with CS from 2 Old Order Amish families. Sequence analysis of the ERCC6 gene revealed 2 novel mutations associated with the disorder in these patients. The patients from family 1 were homozygous for a splice… Expand View on PubMed karger.com Save to Library Create Alert Cite Launch Research Feed Share This Paper 6 CitationsBackground Citations 1 Results Citations 1 View All Figures and Topics from this paper figure 1 figure 2 Cockayne Syndrome Sequence Analysis Homozygote ERCC6 gene Introns Premature aging syndrome Hepatolenticular Degeneration 6 Citations Citation Type Citation Type All Types Cites Results Cites Methods Cites Background Has PDF Publication Type Author More Filters More Filters Filters Sort by Relevance Sort by Most Influenced Papers Sort by Citation Count Sort by Recency Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family C. He, M. Sun, G. Wang, Y. Yang, L. Yao, Y. Wu Biology, Medicine Molecular medicine reports 2017 5 PDF View 1 excerpt, cites results Save Alert Research Feed Abstract. Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized principally by progressive growth failure, neurologic abnormality and premature aging. Mutations of excision repair cross-complementation group 6 (ERCC6) and ERCC8 are predominantly responsible for CS, of which mut 2017 Save Alert Research Feed Identification of Two Missense Mutations of ERCC6 in Three Chinese Sisters with Cockayne Syndrome by Whole Exome Sequencing S. Yu, L. Chen, +6 authors Jiansheng Xie Biology, Medicine PloS one 2014 6 PDF View 1 excerpt, cites background Save Alert Research Feed Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death Yao Kou, M. Shboul, +5 authors J. Tian Medicine Medicine 2018 3 Save Alert Research Feed Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing N. Calmels, Géraldine Greff, +26 authors V. Laugel Biology, Medicine Orphanet Journal of Rare Diseases 2016 23 Save Alert Research Feed Investigation of the molecular basis of three new disorders of brain growth and development identified amongst the Amish E. Baple Psychology 2014 Save Alert Research Feed References SHOWING 1-9 OF 9 REFERENCES Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome V. Laugel, C. Dalloz, +39 authors H. Dollfus Biology, Medicine Human mutation 2010 153 View 1 excerpt, references background Save Alert Research Feed Cockayne syndrome: review of 140 cases. M. Nance, S. Berry Medicine American journal of medical genetics 1992 709 View 2 excerpts, references background Save Alert Research Feed Structure and expression of the excision repair gene ERCC6, involved in the human disorder Cockayne's syndrome group B. C. Troelstra, W. Hesen, D. Bootsma, J. Hoeijmakers Biology, Medicine Nucleic acids research 1993 62 PDF View 1 excerpt, references background Save Alert Research Feed Homozygosity for a novel splice site mutation in the cardiac myosin‐binding protein C gene causes severe neonatal hypertrophic cardiomyopathy B. Xin, E. Puffenberger, John Tumbush, J. R. Bockoven, Heng Wang Medicine American journal of medical genetics. Part A 2007 56 PDF View 1 excerpt, references background Save Alert Research Feed ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes C. Troelstra, A. J. Gool, J. Wit, W. Vermeulen, J. Hoeijmakers Biology, Medicine Cell 1992 610 PDF View 1 excerpt, references background Save Alert Research Feed The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH K. Henning, L. Li, +8 authors E. Friedberg Biology, Medicine Cell 1995 445 View 1 excerpt, references background Save Alert Research Feed The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA. J. Venema, L. Mullenders, A. Natarajan, A. V. van Zeeland, L. Mayne Biology, Medicine Proceedings of the National Academy of Sciences of the United States of America 1990 531 PDF View 1 excerpt, references background Save Alert Research Feed Gene-specific DNA repair of UV-induced cyclobutane pyrimidine dimers in some cancer-prone and premature-aging human syndromes. M. Evans, V. Bohr Biology, Medicine Mutation research 1994 26 View 1 excerpt, references background Save Alert Research Feed Deficient repair of the transcribed strand of active genes in Cockayne's syndrome cells. A. van Hoffen, A. Natarajan, L. Mayne, A. V. van Zeeland, L. Mullenders, J. Venema Biology, Medicine Nucleic acids research 1993 287 Save Alert Research Feed Related Papers Abstract Figures and Topics 6 Citations 9 References Related Papers Stay Connected With Semantic Scholar Sign Up About Semantic Scholar Semantic Scholar is a free, AI-powered research tool for scientific literature, based at the Allen Institute for AI. 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