Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients.

Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients.

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by pathogenic variants in seven nucleotide excision repair genes (XPA to XPG) and POLH involved in translesion synthesis. XP patients have a >1000-fold increased risk for sunlight-induced skin cancers. Many Japanese XP-A pati...

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Bibliographic Details
Main Authors: Jeffrey P Sagun, Sikandar G Khan, Kyoko Imoto, Deborah Tamura, Kyu-Seon Oh, John J DiGiovanna, Kenneth H Kraemer
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2024-12-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1011265
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