التفاصيل البيبلوغرافية
| العنوان: |
DataSheet1_XPC and POLH/XPV Genes Mutated in a Genetic Cluster of Xeroderma Pigmentosum Patients in Northeast Brazil.PDF |
| المؤلفون: |
Ligia Pereira Castro (11953538), Danilo Batista-Vieira (11953541), Tiago Antonio de Souza (11953544), Ana Rafaela de Souza Timoteo (11953547), Jessica Dayanna Landivar Coutinho (11953550), Isabel Cristina Pinheiro de Almeida (11953553), Sheila Ramos de Miranda Henriques (11953556), Fabio Medeiros de Azevedo (11953559), Reginaldo Cruz Alves Rosa (10469803), Patricia L Kannouche (11953562), Alain Sarasin (6630), Carlos Frederico Martins Menck (8778635), Tirzah Braz Petta (11953568) |
| سنة النشر: |
2022 |
| المجموعة: |
Smithsonian Institution: Digital Repository |
| مصطلحات موضوعية: |
Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, genetic cluster, xeroderma pigmentosum, molecular diagnosis, DNA repair, skin cancer |
| الوصف: |
Xeroderma pigmentosum (XP) is a rare genetic condition in which exposure to sunlight leads to a high tumor incidence due to defective DNA repair machinery. Herein, we investigated seven patients clinically diagnosed with XP living in a small city, Montanhas (Rio Grande do Norte), in the Northeast region of Brazil. We performed high-throughput sequencing and, surprisingly, identified two different mutated genes. Six patients carry a novel homozygote mutation in the POLH/XPV gene, c.672_673insT (p.Leu225Serfs*33), while one patient carries a homozygote mutation in the XPC gene, c.2251-1G>C. This latter mutation was previously described in Southeastern Africa (Comoro Island and Mozambique), Pakistan, and in a high incidence in Brazil. The XP-C patient had the first symptoms before the first year of life with aggressive ophthalmologic tumor progression and a melanoma onset at 7 years of age. The XP-V patients presented a milder phenotype with later onset of the disorder (mean age of 16 years old), and one of the six XP-V patients developed melanoma at 72 years. The photoprotection is minimal among them, mainly for the XP-V patients. The differences in the disease severity between XP-C (more aggressive) and XP-V (milder) patients are obvious and point to the major role of photoprotection in the XPs. We estimate that the incidence of XP patients at Montanhas can be higher, but with no diagnosis, due to poor health assistance. Patients still suffer from the stigmatization of the condition, impairing diagnosis, education for sun protection, and medical care. |
| نوع الوثيقة: |
dataset |
| اللغة: |
unknown |
| العلاقة: |
https://figshare.com/articles/dataset/DataSheet1_XPC_and_POLH_XPV_Genes_Mutated_in_a_Genetic_Cluster_of_Xeroderma_Pigmentosum_Patients_in_Northeast_Brazil_PDF/18516989Test |
| DOI: |
10.3389/fgene.2021.784963.s001 |
| الإتاحة: |
https://doi.org/10.3389/fgene.2021.784963.s001Test |
| حقوق: |
CC BY 4.0 |
| رقم الانضمام: |
edsbas.69ED22DD |
| قاعدة البيانات: |
BASE |
