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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

Xeroderma Pigmentosum: Low Prevalence of Germline XPA Mutations in a Brazilian XP Population

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Autor(es):
Santiago, Karina Miranda [1, 2] ; de Nobrega, Amanda Franca [2] ; Rocha, Rafael Malagoli [3] ; Rogatto, Silvia Regina [4, 5] ; Achatz, Maria Isabel [2, 4]
Número total de Autores: 5
Afiliação do(s) autor(es):
[1] AC Camargo Canc Ctr, Int Res Ctr, BR-01508010 Sao Paulo, SP - Brazil
[2] AC Camargo Canc Ctr, Dept Oncogenet, BR-01509900 Sao Paulo, SP - Brazil
[3] AC Camargo Canc Ctr, Investigat Pathol Dept, Mol Morphol Grp, BR-01509900 Sao Paulo, SP - Brazil
[4] Natl Inst Sci & Technol Oncogen INCITO, AC Camargo Canc Ctr, Int Res Ctr, BR-01508010 Sao Paulo, SP - Brazil
[5] Univ Sao Paulo State, Dept Urol, Fac Med, BR-18618970 Botucatu, SP - Brazil
Número total de Afiliações: 5
Tipo de documento: Artigo Científico
Fonte: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; v. 16, n. 4, p. 8988-8996, APR 2015.
Citações Web of Science: 3
Resumo

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by DNA repair defects that cause photophobia, sunlight-induced cancers, and neurodegeneration. Prevalence of germline mutations in the nucleotide excision repair gene XPA vary significantly in different populations. No Brazilian patients have been reported to carry a germline mutation in this gene. In this study, the germline mutational status of XPA was determined in Brazilian patients exhibiting major clinical features of XP syndrome. The study was conducted on 27 unrelated patients from select Brazilian families. A biallelic inactivating transition mutation c.619C>T (p.Arg207Ter) was identified in only one patient with a history of neurological impairment and mild skin abnormalities. These findings suggest that XP syndrome is rarely associated with inherited disease-causing XPA mutations in the Brazilian population. Additionally, this report demonstrates the effectiveness of genotype-phenotype correlation as a valuable tool to guide direct genetic screening. (AU)

Processo FAPESP: 08/57887-9 - Instituto Nacional de Oncogenômica
Beneficiário:Luiz Paulo Kowalski
Linha de fomento: Auxílio à Pesquisa - Temático
Processo FAPESP: 09/16895-1 - Caracterização de mutações germinativas presentes nos genes XPA e XPC em pacientes brasileiros clinicamente diagnosticados com xeroderma Pigmentoso
Beneficiário:Maria Isabel Alves de Souza Waddington Achatz
Linha de fomento: Auxílio à Pesquisa - Regular