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Characterization of germline mutations in XPA and XPC genes in Brazilian patients clinically diagnosed with Xeroderma pigmentosum

Abstract

Xeroderma Pigmentosum (XP) is a rare autossomic recessive hereditary disease, until now characterized by the presence of mutations in eight products of genes associated with the nucleotide excision DNA repair system (XPA, ERCC3, XPC, ERCC2, DDB, ERCC4 and ERCC5) or a product of a gene associated with the trans-lesion synthesis (POLH).Carriers develop a high sensitivity of skin to ultraviolet rays. This genetic condition results in early and chronic onset of degenerative lesions in skin, eyes and occasionally neurological lesions likely to develop into cancer. Approximately 90% of Xeroderma Pigmentosum cases carry mutations in XPA, XPC, ERCC2 and POLH. The most frequently mutated genes are the XPA and XPC, which account for approximately 50% of mutations found in XP cases. Clinical diagnosis is based on typical skin alterations, present in all patients, and frequently consanguinity. Given the paucity of specific literature data about the incidence, clinical and molecular characteristics of this disease in Brazilian population, this project aims to describe the occurrence of germline mutations in XPA and XPC genes in the etiology of the Xeroderma Pigmentosum syndrome, characterize the genetic alterations found and correlate them to the clinical phenotype. (AU)

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Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
SANTIAGO, K. M.; CASTRO, L. P.; NETO, J. P. D.; DE NOBREGA, A. F.; PINTO, C. A. L.; ASHTON-PROLLA, P.; PINTO E VAIRO, F.; DE MEDEIROS, V, P. F.; RIBEIRO, E. M.; RIBEIRO, B. F. R.; et al. Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients. JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, v. 34, n. 10, . (09/16895-1, 14/15982-6)
SANTIAGO, KARINA MIRANDA; DE NOBREGA, AMANDA FRANCA; ROCHA, RAFAEL MALAGOLI; ROGATTO, SILVIA REGINA; ACHATZ, MARIA ISABEL. Xeroderma Pigmentosum: Low Prevalence of Germline XPA Mutations in a Brazilian XP Population. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, v. 16, n. 4, p. 8988-8996, . (09/16895-1, 08/57887-9)

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