Dwarfism Research Today is a free monthly online journal that collates and summarizes the latest research about Dwarfism, including details on genetics, diet, mental and motor development.

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

Bertola DR, Cao H, Albano LM, Oliveira DP, Kok F, Marques-Dias MJ, Kim CA, Hegele RA

Genetics Clinic Unit, Instituto da Criança do Hospital das Clínicas, University of São Paulo, Sao Paulo, Brazil. deborarb@icr.hcnet.usp.br

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.

Published 30 August 2006 in J Hum Genet, 51(8): 701-5.
Full-text of this article is available online (may require subscription).

© 2005-2008 Dwarfism Research Today. All Rights Reserved.