Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1

Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1

Inherited retinal diseases (IRDs) represent a spectrum of clinically and genetically heterogeneous disorders. Our study describes an IRD patient carrying ABCA4 and USH2A pathogenic biallelic mutations as a result of paternal uniparental disomy (UPD) in chromosome 1. The proband is a 9-year-old girl...

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Bibliographic Details
Main Authors: R. Villafuerte-De la Cruz, O. F. Chacon-Camacho, A. C. Rodriguez-Martinez, N. Xilotl-De Jesus, R. Arce-Gonzalez, C. Rodriguez-De la Torre, J. E. Valdez-Garcia, A. Rojas-Martinez, J. C. Zenteno
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Genetics
Subjects:
uniparental disomy
retinal dystrophy
USH2A gene
ABCA4 gene
Stargardt disease
Usher syndrome
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.949437/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.949437/full

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