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A Novel DNA Repair Disorder With Thrombocytopenia, Nephrosis, and Features Overlapping Cockayne Syndrome
journal contribution
posted on 2023-06-08, 00:38 authored by Elizabeth Forsythe, Ruth Wild, Gabrielle Sellick, Richard S. Houlston, Alan LehmannAlan Lehmann, Emma WakelingWe 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.
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Publication status
- Published
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- Published version
Journal
American Journal of Medical Genetics Part AISSN
1552-4825Publisher
Wiley-BlackwellExternal DOI
Issue
10Volume
149APage range
2075-2079Pages
5.0Department affiliated with
- Sussex Centre for Genome Damage Stability Publications
Full text available
- Yes
Peer reviewed?
- Yes
Legacy Posted Date
2012-02-06First Open Access (FOA) Date
2012-03-15First Compliant Deposit (FCD) Date
2012-03-15Usage metrics
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