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NIH Research Festival

September 13 – 15, 2017

Xeroderma Pigmentosum in Brazil – defining clinical profile and mutational spectrum in an admixed population

Wednesday, September 13, 2017 – Poster Session II
3:30 – 5:00 p.m.

FAES Terrace

NCI

GEN-9

Authors

  • KM Santiago
  • LP Castro
  • SR Rogatto
  • JPD Neto
  • P Ashton-Prolla
  • PFV Medeiros
  • EM Ribeiro
  • BF Rodrigues
  • FF Valle
  • MJR Doriqui
  • CHB Leite
  • LMS Moura
  • V Munford
  • CFM Menck
  • MIW Achatz

Abstract

Xeroderma Pigmentosum (XP) syndrome is an autosomal recessive disease linked to germline biallelic mutations in genes from the nucleotide excision repair or translesion synthesis pathways and associated with an increase in risk of developing skin tumors due to damaging effects of ultraviolet radiation. Beyonnnd the recent comprehensive description of a Brazilian region, named Araras, with the densest known area of XP patients, the molecular pattern of XP syndrome widespread in this tropical country is unknown. The aim of this study was to analyze the clinical profile and molecular diagnosis of XP Brazilian cases from distinct Brazilian regions. We investigated the XPA, ERCC3/XPB, XPC, ERCC2/XPD, DDB2/XPE, ERCC4/XPF, ERCC5/XPG and POLH/XPV genes by Sanger or targeted exome sequencing searching for germiline variants in blood or saliva samples from 28 families. Pathogenic or likely pathogenic variants were detected in all index cases occurring in the XPA (1), XPC (17), ERCC2/XPD (1), DDB2/XPE (1), ERCC5/XPG (1) and POLH/XPV (7) genes, including nine novel mutations. One mutation in POLH/XPV and six in XPC were found in more than one unrelated family, including the XPC:c.2251-1G>C found in a high frequency (10 cases) and previously identified in the Comorian Islands. Clinical presentation does not differ from those in different countries, with exception of POLH/XPV cases that presented the first clinical manifestation earlier. This study identified the XPC and POLH/XPV as the predominantly mutated genes and brought the first report of a XPA Brazilian case, contributing to the knowledge of mutational spectrum of XP in the Brazilian population.

Scientific Focus Area: Genetics and Genomics

This page was last updated on Friday, March 26, 2021

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2017 program

Download the 2017 Research Festival Schedule Overview (6 pages)

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Current Research Festival

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  • 2024
    • General Schedule of Events
    • 2024 NIH Distinguished Scholars Program
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    • National Academy of Science Mini-Symposium
    • Special Wednesday Events
    • Vendor Exhibit Information
    • Green Labs Fair
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  • 2023
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    • NIH Early–Career Investigator Lectures
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    • Vendor Exhibit Information
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  • 2021
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    • General Schedule of Events
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    • Poster Session
    • Data Blitz
    • FARE Award Ceremony
    • Special Exhibits on Resources for Intramural Research
    • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
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  • 2018
    • General Schedule of Events
    • Plenary Sessions
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    • FARE Award Ceremony
    • Special Exhibits on Resources for Intramural Research
    • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
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    • General Schedule of Events
    • Plenary Sessions
    • Concurrent Symposia Sessions
    • Poster Sessions
    • FARE Award Ceremony
    • Future Research Leaders
    • Special Exhibits on Resources for Intramural Research
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