Xeroderma pigmentosum: Low prevalence of germline XPA mutations in a brazilian XP population

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dc.contributor.authorSantiago, Karina Miranda
dc.contributor.authorDe Nóbrega, Amanda França
dc.contributor.authorRocha, Rafael Malagoli
dc.contributor.authorRogatto, Silvia Regina
dc.contributor.authorAchatz, Maria Isabel
dc.contributor.institutionA.C. Camargo Cancer Center
dc.contributor.institutionNational Institute of Science and Technology in Oncogenomics (INCITO)
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.date.accessioned2022-04-29T08:45:01Z
dc.date.available2022-04-29T08:45:01Z
dc.date.issued2015-04-01
dc.description.abstractXeroderma 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.en
dc.description.affiliationInternational Research Center A.C. Camargo Cancer Center
dc.description.affiliationDepartment of Oncogenetics A.C. Camargo Cancer Center
dc.description.affiliationMolecular Morphology Group Investigative Pathology Department A.C. Camargo Cancer Center
dc.description.affiliationInternational Research Center A.C. Camargo Cancer Center National Institute of Science and Technology in Oncogenomics (INCITO)
dc.description.affiliationDepartment of Urology Faculty of Medicine University of São Paulo State
dc.format.extent8988-8996
dc.identifierhttp://dx.doi.org/10.3390/ijms16048988
dc.identifier.citationInternational Journal of Molecular Sciences, v. 16, n. 4, p. 8988-8996, 2015.
dc.identifier.doi10.3390/ijms16048988
dc.identifier.issn1422-0067
dc.identifier.issn1661-6596
dc.identifier.scopus2-s2.0-84982221225
dc.identifier.urihttp://hdl.handle.net/11449/231381
dc.language.isoeng
dc.relation.ispartofInternational Journal of Molecular Sciences
dc.sourceScopus
dc.subjectNeurodegeneration
dc.subjectSkin cancer
dc.subjectXeroderma pigmentosum syndrome
dc.subjectXPA gene
dc.titleXeroderma pigmentosum: Low prevalence of germline XPA mutations in a brazilian XP populationen
dc.typeArtigo

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