title: Cockayne syndrome type A: novel mutations in eight typical patients.
abstract: 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.
authors.affiliation: Genetics Clinic Unit, Instituto da Criança do Hospital das Clínicas, University of São Paulo, Sao Paulo, Brazil. deborarb@icr.hcnet.usp.br.|, Av. Dr. Enéas Carvalho de Aguiar, 647, Sao Paulo, 05403-900, Brazil. deborarb@icr.hcnet.usp.br.
authors.forename: Debora R
authors.initials: DR
authors.lastname: Bertola
authors.affiliation: Robarts Research Institute, 406-100 Perth Drive, London, ON, Canada, N6A 5K8.
authors.forename: Henian
authors.initials: H
authors.lastname: Cao
authors.affiliation: Genetics Clinic Unit, Instituto da Criança do Hospital das Clínicas, University of São Paulo, Sao Paulo, Brazil.
authors.forename: Lilian M J
authors.initials: LMJ
authors.lastname: Albano
authors.affiliation: Department of Neurology, University of Sao Paulo, Sao Paulo, Brazil.
authors.forename: Daniela P
authors.initials: DP
authors.lastname: Oliveira
authors.affiliation: Department of Neurology, University of Sao Paulo, Sao Paulo, Brazil.
authors.forename: Fernando
authors.initials: F
authors.lastname: Kok
authors.affiliation: Department of Neurology, University of Sao Paulo, Sao Paulo, Brazil.
authors.forename: Maria Joaquina
authors.initials: MJ
authors.lastname: Marques-Dias
authors.affiliation: Genetics Clinic Unit, Instituto da Criança do Hospital das Clínicas, University of São Paulo, Sao Paulo, Brazil.
authors.forename: Chong A
authors.initials: CA
authors.lastname: Kim
authors.affiliation: Robarts Research Institute, 406-100 Perth Drive, London, ON, Canada, N6A 5K8.
authors.forename: Robert A
authors.initials: RA
authors.lastname: Hegele
mesh_terms: D001938:Brazil; D002648:Child; D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000235:genetics*; D004252:DNA Mutational Analysis; D045643:DNA Repair Enzymes / Q000235:genetics; D005260:Female; D015894:Genome, Human / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics
chemical_list: C095472:ERCC8 protein, human; D014157:Transcription Factors; D045643:DNA Repair Enzymes