Cockayne syndrome type A: novel mutations in eight typical patients.
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.
Bertola
Debora R
DR
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.
Cao
Henian
H
Robarts Research Institute, 406-100 Perth Drive, London, ON, Canada, N6A 5K8.
Albano
Lilian M J
LMJ
Genetics Clinic Unit, Instituto da Criança do Hospital das Clínicas, University of São Paulo, Sao Paulo, Brazil.
Oliveira
Daniela P
DP
Department of Neurology, University of Sao Paulo, Sao Paulo, Brazil.
Kok
Fernando
F
Department of Neurology, University of Sao Paulo, Sao Paulo, Brazil.
Marques-Dias
Maria Joaquina
MJ
Department of Neurology, University of Sao Paulo, Sao Paulo, Brazil.
Kim
Chong A
CA
Genetics Clinic Unit, Instituto da Criança do Hospital das Clínicas, University of São Paulo, Sao Paulo, Brazil.
Hegele
Robert A
RA
Robarts Research Institute, 406-100 Perth Drive, London, ON, Canada, N6A 5K8.
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
C095472:ERCC8 protein, human; D014157:Transcription Factors; D045643:DNA Repair Enzymes