How to cite this article: Forsythe E, Wild R, Sellick G, Houlston RS, Lehmann AR, Wakeling E. 2009. A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome. Am J Med Genet Part A 149A:2075–2079.
A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome†
Version of Record online: 16 SEP 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 10, pages 2075–2079, October 2009
How to Cite
Forsythe, E., Wild, R., Sellick, G., Houlston, R. S., Lehmann, A. R. and Wakeling, E. (2009), A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome. Am. J. Med. Genet., 149A: 2075–2079. doi: 10.1002/ajmg.a.32995
- Issue online: 24 SEP 2009
- Version of Record online: 16 SEP 2009
- Manuscript Accepted: 20 MAY 2009
- Manuscript Received: 22 SEP 2008
- autosomal recessive inheritance;
- Cockayne syndrome;
- DNA repair disorders;
- linkage analysis;
- nephrotic syndrome;
- UV irradiation
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. © 2009 Wiley-Liss, Inc.