A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome

Forsythe, Elizabeth, Wild, Ruth, Sellick, Gabrielle, Houlston, Richard S., Lehmann, Alan R. and Wakeling, Emma (2009) A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome. American Journal of Medical Genetics Part A, 149A (10). pp. 2075-2079. ISSN 1552-4825

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We report on four siblings with Cockayne-like syndrome with thrombocytopenia and nephrotic syndrome. The parents were healthy and consanguineous, consistent with an autosomal recessive mode of disease inheritance. UV irradiation of fibroblasts revealed an intermediate sensitivity between normal and standard Cockayne syndrome (CS) control cells. A genome-wide linkage scan conducted using Affymetrix 10K arrays provided exclusion of the known CS genes in the family, and evidence that the disease gene maps to 1p33-p31.1. Thrombocytopenia has not previously been linked with CS, but two patients with CS in association with nephrotic syndrome have previously been documented and the phenotypes are compared with the patients described here. We suggest that this Cockayne-like phenotype with thrombocytopenia and nephrotic syndrome may be a novel DNA repair disorder, and propose that further investigation of other affected families may help identify the causative genetic defect.

Item Type: Article
Additional Information: GDSC303
Keywords: Autosomal recessive inheritance; Cockayne syndrome; DNA repair disorders; Linkage analysis; Nephrotic syndrome; Thrombocytopenia; UV irradiation
Schools and Departments: School of Life Sciences > Sussex Centre for Genome Damage and Stability
Subjects: Q Science > QH Natural history > QH0301 Biology > QH0426 Genetics
Depositing User: Gee Wheatley
Date Deposited: 19 Jul 2010
Last Modified: 02 Jul 2019 21:52
URI: http://sro.sussex.ac.uk/id/eprint/2426

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