{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T14:33:10Z","timestamp":1776954790832,"version":"3.51.4"},"reference-count":28,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2015,4,22]],"date-time":"2015-04-22T00:00:00Z","timestamp":1429660800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Funda\u00e7\u00e3o de Amparo a Pesquisa do Estado de S\u00e3o Paulo (FAPESP)","award":["2009\/16895-1"],"award-info":[{"award-number":["2009\/16895-1"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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&gt;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.<\/jats:p>","DOI":"10.3390\/ijms16048988","type":"journal-article","created":{"date-parts":[[2015,4,22]],"date-time":"2015-04-22T12:14:23Z","timestamp":1429704863000},"page":"8988-8996","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Xeroderma Pigmentosum: Low Prevalence of Germline XPA Mutations in a Brazilian XP Population"],"prefix":"10.3390","volume":"16","author":[{"given":"Karina","family":"Santiago","sequence":"first","affiliation":[{"name":"International Research Center, A.C. Camargo Cancer Center, S\u00e3o Paulo, SP 01508-010, Brazil"},{"name":"Department of Oncogenetics, A.C. Camargo Cancer Center, S\u00e3o Paulo, SP 01509-900, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda","family":"Fran\u00e7a de N\u00f3brega","sequence":"additional","affiliation":[{"name":"Department of Oncogenetics, A.C. Camargo Cancer Center, S\u00e3o Paulo, SP 01509-900, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafael","family":"Rocha","sequence":"additional","affiliation":[{"name":"Molecular Morphology Group, Investigative Pathology Department, A.C. Camargo Cancer Center,  S\u00e3o Paulo, SP 01509-900, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Rogatto","sequence":"additional","affiliation":[{"name":"International Research Center, A.C. Camargo Cancer Center, National Institute of Science and Technology in Oncogenomics (INCITO), S\u00e3o Paulo, SP 01508-010, Brazil"},{"name":"Department of Urology, Faculty of Medicine, University of S\u00e3o Paulo State, Botucatu,  SP 18618-970, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Achatz","sequence":"additional","affiliation":[{"name":"Department of Oncogenetics, A.C. Camargo Cancer Center, S\u00e3o Paulo, SP 01509-900, Brazil"},{"name":"International Research Center, A.C. Camargo Cancer Center, National Institute of Science and Technology in Oncogenomics (INCITO), S\u00e3o Paulo, SP 01508-010, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2015,4,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1039\/c2pp25267h","article-title":"Spotlight on \u201cxeroderma pigmentosum\u201d","volume":"12","author":"Fassihi","year":"2013","journal-title":"Photochem. Photobiol. Sci."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1038\/nrg2663","article-title":"Disorders of nucleotide excision repair: The genetic and molecular basis of heterogeneity","volume":"10","author":"Cleaver","year":"2009","journal-title":"Nat. Rev. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Friedberg, E.C. (2004). The discovery that xeroderma pigmentosum (XP) results from defective nucleotide excision repair. 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