Case Report: Identification of a Heterozygous XPA c.553C>T Mutation Causing Neurological Impairment in a Case of Xeroderma Pigmentosum Complementation Group A

Case Report: Identification of a Heterozygous XPA c.553C>T Mutation Causing Neurological Impairment in a Case of Xeroderma Pigmentosum Complementation Group A

We aimed to determine if an adolescent patient presenting with neurological impairment has xeroderma pigmentosum (XP). For this purpose, whole-exome sequencing was performed to assess mutations in XP genes. Dermal fibroblasts were established from a skin biopsy and XPA expression determined by immun...

Full description

Bibliographic Details
Main Authors: Juan Antonio García-Carmona, Matthew J. Yousefzadeh, Fernando Alarcón-Soldevilla, Eva Fages-Caravaca, Tra L. Kieu, Mariah A. Witt, Ángel López-Ávila, Laura J. Niedernhofer, José Antonio Pérez-Vicente
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-08-01
Series:Frontiers in Genetics
Subjects:
xeroderma pigmentosum group A
neurode generation
DNA repair activity
nucleotide excision repair
mutation
rare diseases
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.717361/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.717361/full

Similar Items