Xeroderma pigmentosum complementation group G—report of two cases

1 June 1987

journal article
research article
Published by Oxford University Press (OUP) in British Journal of Dermatology

Vol. 116 (6) , 861-866
https://doi.org/10.1111/j.1365-2133.1987.tb04906.x

Abstract

Genetic complementation studies allowed assignment of a brother (XP124LO) and sister (XP125LO), aged 14 and 12 years respectively, to the rate complementation group of classical xeroderma pigmentosum (XP), XP-G. Both patients manifested only mild cutaneous changes, with no UV-induced skin tumours, although abnormal sensitivity to UVB wavelengths was demonstrated by irradiation monochromator skin testing. Physical and neurological development was normal. Measurement of UV-induced unscheduled DNA synthesis in cultured fibroblasts showed reduction of repair synthesis to 14% and 16% of normal in XP124LO and XP125LO, respectively. This contrasts with a reduction to 5% of normal in previously described group G patients, XP2BI and XP3BR, who had correspondingly severe cutaneous and neurological manifestations.

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