College of Osteopathic Medicine Faculty Articles

Title

Analysis of Genomic Instability using Multiple Assays in a Patient with Rothmund-Thomson Syndrome

ISBN or ISSN

0009-9163

Publication Title

Clinical genetics

Volume

58

Issue

3

Publication Date / Copyright Date

9-1-2000

First Page

209

Last Page

15

DOI Number

10.1034/j.1399-0004.2000.580308.x

Abstract

We report on a patient with Rothmund–Thomson syndrome (RTS) whose cytogenetic evaluation showed a normal karyotype with no evidence of trisomy mosaicism or chromosomal rearrangements. Cultured lymphocytes from the patient, her mother, and a control exposed to mitomycin C and diepoxybutane did not show increased sensitivity to the dialkylating agents. Unlike some previous reports, we found no evidence of a deficiency in nucleotide excision repair, as measured with the functional unscheduled DNA synthesis assay. Glycophorin A analysis of red blood cells for somatic mutation revealed suspiciously high frequencies of both allele loss and loss-and-duplication variants in the blood of the patient, a pattern consistent with observations in other RecQ-related human diseases, and evidence for clonal expansion of a mutant clone in the mother. Discrepant results in the literature may reflect true heterogeneity in the disease or the fact that a consistent set of tests has not been applied to RTS patients.

Disciplines

Medical Specialties | Medicine and Health Sciences | Osteopathic Medicine and Osteopathy

This document is currently not available here.

Peer Reviewed

Find in your library

Share

COinS