Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes.
Journal
Human genome variation
ISSN: 2054-345X
Titre abrégé: Hum Genome Var
Pays: England
ID NLM: 101652445
Informations de publication
Date de publication:
30 Aug 2024
30 Aug 2024
Historique:
received:
18
05
2024
accepted:
21
07
2024
revised:
08
07
2024
medline:
31
8
2024
pubmed:
31
8
2024
entrez:
30
8
2024
Statut:
epublish
Résumé
Hereditary ataxias are classified by inheritance patterns into autosomal dominant, autosomal recessive, X-linked, and mitochondrial modes of inheritance. A large group of adult hereditary ataxias have autosomal dominant inheritance, and autosomal recessive cerebellar ataxias (ARCAs) are rare, with greater diversity in phenotypic and genotypic features. Therefore, comprehensive genetic testing is useful for identifying the genes responsible for ARCAs. We identified two novel pathogenic variants of the SQSTM1 and SYNE1 genes via whole-exome sequencing in patients with ARCAs.
Identifiants
pubmed: 39214971
doi: 10.1038/s41439-024-00292-x
pii: 10.1038/s41439-024-00292-x
pmc: PMC11364807
doi:
Types de publication
Journal Article
Langues
eng
Pagination
35Informations de copyright
© 2024. The Author(s).
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