Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy

Launched by NATIONAL CANCER INSTITUTE (NCI) · Nov 3, 1999

Keywords

ClinConnect Summary

Three rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD) have defective DNA excision repair although only XP has increased cancer susceptibility. We plan to perform careful clinical examination of selected patients with XP, CS, TTD, or overlap syndromes to follow their clinical course. We will obtain tissue (skin, blood, hair, or buccal cells) for laboratory examination of DNA repair and for histologic, protein, biochemical, and genetic analysis. We hope to be able to correlate these laboratory abnormalities with the clinical features to...

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Eligibility criteria

• * INCLUSION CRITERIA:
• * Subjects age 6 weeks and above:
• • with clinical and/or laboratory documentation of typical features or suggestive clinical features of XP, CS, TTD, or overlap syndromes or
• • that are first degree relatives or other family members of participants with XP, CS, TTD, or overlap syndromes
• • Healthy volunteers of age 1 year and above (including NIH employees) willing to donate blood, skin, buccal cells, or hair.
• • Patients or legally authorized representatives must provide informed consent.
• EXCLUSION CRITERIA:
• • -Inability or unwillingness to provide tissue (skin, blood, buccal cells or hair) for laboratory studies.