A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia.
Neurogenetics
; 24(1): 55-60, 2023 01.
Article
em En
| MEDLINE
| ID: mdl-36190665
ABSTRACT
Cerebellar ataxias (CAs) comprise a rare group of neurological disorders characterized by extensive phenotypic and genetic heterogeneity. In the last several years, our understanding of the CA etiology has increased significantly and resulted in the discoveries of numerous ataxia-associated genes. Herein, we describe a single affected individual from a consanguineous family segregating a recessive neurodevelopmental disorder. The proband showed features such as global developmental delay, cerebellar atrophy, hypotonia, speech issues, dystonia, and profound hearing impairment. Whole-exome sequencing and Sanger sequencing revealed a biallelic nonsense variant (c.496A > T; p.Lys166*) in the exon 5 of the PRDX3 gene that segregated perfectly within the family. This is the third report that associates the PRDX3 gene variant with cerebellar ataxia. In addition, associated hearing impairment further delineates the PRDX3 associated gene phenotypes.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Ataxia Cerebelar
/
Doenças Cerebelares
Limite:
Humans
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article