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Cockayne syndrome type A: novel mutations in eight typical patients.

Authors: Bertola, DR  Cao, H  Albano, LM  Oliveira, DP  Kok, F  Marques-Dias, MJ  Kim, CA  Hegele, RA 
Citation: Bertola DR, etal., J Hum Genet. 2006;51(8):701-5. Epub 2006 Jul 25.
Pubmed: (View Article at PubMed) PMID:16865293
DOI: Full-text: DOI:10.1007/s10038-006-0011-7

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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CRRD Object Information
CRRD ID: 10401106
Created: 2015-09-25
Species: All species
Last Modified: 2015-09-25
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.