Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity
- 1 October 1986
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 74 (2) , 107-112
- https://doi.org/10.1007/bf00282072
Abstract
We studied the response to UV irradiation in cells from four patients, from three apparently unrelated families, affected by trichothiodystrophy (TTD). They showed all the symptoms of this rare autosomal recessive disorder (brittle hair with reduced sulfur content, mental and physical retardation, ichthyosis, peculiar face) together with photosensitivity. We found a decreased rate of duplicative DNA synthesis in stimulated lymphocytes, reduced survival in fibroblasts, and very low levels of unscheduled DNA synthesis (UDS) in Go lymphocytes and fibroblasts after UV irradiation. Complementation studies showed that normal values of UDS are restored in heterokaryons obtained by fusion of TTD cells with normal and xeroderma pigmentosum (XP)-complementation group A-cells. In contrast the defect is not complemented by fusion with XP-complementation group D-fibroblasts.This publication has 38 references indexed in Scilit:
- PIBI(D)S syndrome: A new entity with defect of the deoxyribonucleic acid excision repair systemJournal of the American Academy of Dermatology, 1985
- PIBIDS: Tay's syndrome and xeroderma pigmentosumJournal of the American Academy of Dermatology, 1985
- Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failureJournal of the American Academy of Dermatology, 1984
- A New Human Photosensitive Subject with a Defect in the Recovery of DNA Synthesis after Ultraviolet-light IrradiationJournal of Investigative Dermatology, 1981
- Different rates of restoration of the repair capacity in complementing xeroderma pigmentosum cells after fusionExperimental Cell Research, 1981
- Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities: A link between the ichthyosis-associated and BIDS syndromesJournal of the American Academy of Dermatology, 1980
- Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardationThe Journal of Pediatrics, 1979
- UV-induced DNA repair in hairy cell leukaemia patientsCancer Letters, 1979
- Effects of DNA damaging agents on cultured fibroblasts derived from patients with Cockayne syndromeMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 1979
- A Human Subject with A New Defect in Repair of Ultraviolet DamageJournal of Investigative Dermatology, 1978