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Content Provider | World Health Organization (WHO)-Global Index Medicus |
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Author | Butler, I. J. Greenhaw, G. A. Hecht, J. T. Horton, W. A. Duke-Woodside, M. E. Cleaver, J. E. Hebert, A. Thomas, G. H. |
Description | Author Affiliation: Greenhaw GA ( Department of Pediatrics, University of Texas Medical School, Houston 77225.) |
Abstract | Two siblings are described whose clinical presentation of cutaneous photosensitivity and central nervous system dysfunction is strongly reminiscent of the DeSanctis-Cacchione syndrome (DCS) variant of xeroderma pigmentosum. An extensive clinical evaluation supported a diagnosis of DCS and documented previously unreported findings. In vitro fibroblast studies showed UV sensitivity that was two to three times that of normal controls. However, neither a post-UV-irradiation DNA excision-repair defect indicative of XP nor a semiconservative DNA replication defect indicative of XP variant was found. Rather, a failure of RNA synthesis to recover to normal levels after UV exposure was observed, a biochemical abnormality seen in Cockayne syndrome (CS), one of the premature-aging syndromes with clinical UV sensitivity. These patients, therefore, clinically have XP, but their biochemical characteristics suggest CS. The reason(s) for the severe neurologic disease, in light of the relatively mild cutaneous abnormalities, is unclear. Other cases with unusual fibroblast responses to irradiation have been noted in the literature and, along with the data from our patients, reinforce the notion of the complexity of DNA maintenance and repair. |
ISSN | 00029297 |
e-ISSN | 15376605 |
Journal | The American Journal of Human Genetics |
Issue Number | 4 |
Volume Number | 50 |
Language | English |
Publisher | Cell Press (on behalf of American Society of Human Genetics) |
Publisher Date | 1992-04-01 |
Publisher Place | United States |
Access Restriction | Open |
Subject Keyword | Cockayne Syndrome Genetics Dna Repair Dna Replication Xeroderma Pigmentosum Diagnosis Biosynthesis Radiation Effects Diagnosis, Differential Phenotype Photosensitivity Disorders Research Support, U.s. Gov't, Non-p.h.s. Discipline Human Genetics |
Content Type | Text |
Resource Type | Article Case study |
Subject | Genetics (clinical) Genetics |
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