Prenatal diagnosis of xeroderma pigmentosum and cockayne syndrome |
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Authors: | James E Cleaver John P G Volpe Wayne C Charles Gregory H Thomas |
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Institution: | Laboratory of Radiobiology and Environmental Health, University of California, San Francisco, Box 0750, San Francisco, CA 94143–0750, U.S.A |
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Abstract: | In a study of fetal cells from a series of 12 pregnancies in ten families at risk for the ultraviolet light-sensitive, DNA repair-deficient diseases xeroderma pigmentosum (XP) and Cockayne syndrome (CS), we detected one XP and two CS homozygote fetuses. The diagnoses were confirmed by analysis of fetal skin fibroblasts or second amniotic samples after termination of the pregnancies. The measurement of ultraviolet light sensitivity and DNA repair depended on properties common to the seven excision repair-deficient XP complementation groups (A-G) and the two CS complementation groups (A, B). No XP variant families were included in the study, because the variant requires different testing techniques. Reliable and rapid diagnosis proved possible in all but one of the 12 pregnancies, supporting the use of these methods until the spectrum of mutations in the various XP and CS genes of the U. S. population is fully characterized and a DNA sequence-based diagnostic procedure becomes available. |
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Keywords: | Ultraviolet sensitivity DNA repair xeroderma pigmentosum Cockayne syndrome |
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