Whole-Exome Sequencing and C9orf72 Analysis in Primary Progressive Aphasia.
Alzheimer’s disease
C9orf72 protein
MAPT protein
frontotemporal degeneration
genetics
primary progressive aphasia
progranulin
Journal
Journal of Alzheimer's disease : JAD
ISSN: 1875-8908
Titre abrégé: J Alzheimers Dis
Pays: Netherlands
ID NLM: 9814863
Informations de publication
Date de publication:
2021
2021
Historique:
pubmed:
23
2
2021
medline:
15
9
2021
entrez:
22
2
2021
Statut:
ppublish
Résumé
Primary progressive aphasia (PPA) is mainly considered a sporadic disease and few studies have systematically analyzed its genetic basis. We here report the analyses of C9orf72 genotyping and whole-exome sequencing data in a consecutive and well-characterized cohort of 50 patients with PPA. We identified three pathogenic GRN variants, one of them unreported, and two cases with C9orf72 expansions. In addition, one likely pathogenic variant was found in the SQSTM1 gene. Overall, we found 12%of patients carrying pathogenic or likely pathogenic variants. These results support the genetic role in the pathophysiology of a proportion of patients with PPA.
Identifiants
pubmed: 33612544
pii: JAD201310
doi: 10.3233/JAD-201310
doi:
Substances chimiques
C9orf72 Protein
0
C9orf72 protein, human
0
GRN protein, human
0
Progranulins
0
SQSTM1 protein, human
0
Sequestosome-1 Protein
0
Types de publication
Letter
Langues
eng
Sous-ensembles de citation
IM