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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Abstract

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. (c) 2009 Wiley-Liss, Inc.

Item Type: Article
Schools and Departments: School of Life Sciences > Sussex Centre for Genome Damage and Stability
Depositing User: Alan Lehmann
Date Deposited: 06 Feb 2012 19:56
Last Modified: 07 Mar 2017 04:00
URI: http://sro.sussex.ac.uk/id/eprint/23101

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