| Cockayne syndrome type A: novel mutations in eight typical patients. | |
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MedLine Citation:
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PMID: 16865293 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Cockayne syndrome is a rare autosomal recessive neurodegenerative disorder. It is considered to be a heterogeneous condition based on complementation in cell fusion studies, with two major forms, namely CS-A and CS-B. CKN1 is the gene responsible for CS-A, whose mutations disrupt the transcription-coupled repair system of the actively transcribed DNA. Mutation analysis of the CKN1 gene in eight typical CS-A Brazilian patients from six families showed a gene alteration in all of them. We found a total of five novel mutations that were absent from healthy control subjects. Six affected subjects were simple homozygotes and two affected siblings were each compound heterozygotes. While the findings extend the range of mutations in CS-A, there is no obvious genotype-phenotype correlation across the mutational spectrum. |
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Authors:
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Debora R Bertola; Henian Cao; Lilian M J Albano; Daniela P Oliveira; Fernando Kok; Maria Joaquina Marques-Dias; Chong A Kim; Robert A Hegele |
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Publication Detail:
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Type: Journal Article Date: 2006-07-25 |
Journal Detail:
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Title: Journal of human genetics Volume: 51 ISSN: 1434-5161 ISO Abbreviation: J. Hum. Genet. Publication Date: 2006 |
Date Detail:
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Created Date: 2006-08-30 Completed Date: 2006-10-06 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9808008 Medline TA: J Hum Genet Country: Japan |
Other Details:
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Languages: eng Pagination: 701-5 Citation Subset: IM |
Affiliation:
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Genetics Clinic Unit, Instituto da Criança do Hospital das Clínicas, University of São Paulo, Sao Paulo, Brazil. deborarb@icr.hcnet.usp.br |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Brazil Child Child, Preschool Cockayne Syndrome / genetics* DNA Mutational Analysis DNA Repair Enzymes / genetics Female Genome, Human / genetics Humans Male Mutation / genetics* Transcription Factors / genetics |
| Chemical | |
Reg. No./Substance:
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0/ERCC8 protein, human; 0/Transcription Factors; EC 6.5.1.-/DNA Repair Enzymes |
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