Xeroderma pigmentosum: low prevalence of germline XPA mutations in a Brazilian XP population
| Autor: | Rafael Malagoli Rocha, Silvia Regina Rogatto, Amanda F. Nóbrega, Maria Isabel Achatz, Karina Miranda Santiago |
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| Přispěvatelé: | A.C. Camargo Cancer Center, National Institute of Science and Technology in Oncogenomics (INCITO), Universidade de São Paulo (USP) |
| Rok vydání: | 2015 |
| Předmět: |
Male
Xeroderma pigmentosum Adolescent DNA repair Population DNA Mutational Analysis Biology Catalysis Germline Inorganic Chemistry lcsh:Chemistry Germline mutation medicine Prevalence Skin cancer Humans Neurodegeneration Physical and Theoretical Chemistry education Molecular Biology Gene lcsh:QH301-705.5 Spectroscopy Germ-Line Mutation Genetics education.field_of_study Xeroderma Pigmentosum skin cancer Communication Organic Chemistry neurodegeneration General Medicine medicine.disease Computer Science Applications Xeroderma Pigmentosum Group A Protein lcsh:Biology (General) lcsh:QD1-999 xeroderma pigmentosum syndrome Cancer research Xeroderma pigmentosum syndrome Female XPA gene Brazil Nucleotide excision repair |
| Zdroj: | International Journal of Molecular Sciences International Journal of Molecular Sciences, Vol 16, Iss 4, Pp 8988-8996 (2015) Scopus Repositório Institucional da UNESP Universidade Estadual Paulista (UNESP) instacron:UNESP |
| ISSN: | 1422-0067 |
| Popis: | Made available in DSpace on 2022-04-29T08:45:01Z (GMT). No. of bitstreams: 0 Previous issue date: 2015-04-01 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. International Research Center A.C. Camargo Cancer Center Department of Oncogenetics A.C. Camargo Cancer Center Molecular Morphology Group Investigative Pathology Department A.C. Camargo Cancer Center International Research Center A.C. Camargo Cancer Center National Institute of Science and Technology in Oncogenomics (INCITO) Department of Urology Faculty of Medicine University of São Paulo State |
| Databáze: | OpenAIRE |
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