Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer’s disease identified by targeted exome sequencing

Abstract Autosomal dominant Alzheimer’s disease (AD) is caused by mutations in amyloid precursor protein ( APP ), presenilin1 ( PSEN1 ) and presenilin 2 ( PSEN2 ) genes and is mostly associated with early-onset form of AD (EOAD), although very few mutations were also found in late-onset AD (LOAD) ca...

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Bibliographic Details
Published in:Neurobiology of aging 2016-04, Vol.40, p.192.e7-192.e11
Main Authors: Piccoli, Elena, Rossi, Giacomina, Rossi, Tommaso, Pelliccioni, Giuseppe, D’Amato, Ilaria, Tagliavini, Fabrizio, Di Fede, Giuseppe
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Alzheimer Disease - genetics
Alzheimer's disease
Exome - genetics
Female
Genetic Association Studies
Humans
Internal Medicine
Male
Middle Aged
Mutation
Neurology
Presenilin-1 - genetics
PSEN1
Sequence Analysis, DNA - methods
Targeted exome sequencing
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Summary:Abstract Autosomal dominant Alzheimer’s disease (AD) is caused by mutations in amyloid precursor protein ( APP ), presenilin1 ( PSEN1 ) and presenilin 2 ( PSEN2 ) genes and is mostly associated with early-onset form of AD (EOAD), although very few mutations were also found in late-onset AD (LOAD) cases. Since the clinical overlapping between AD and other degenerative dementias such as frontotemporal dementias, a wide-spectrum genetic analysis should be envisaged in the differential diagnosis of this group of disorders. We used next generation sequencing techniques to analyze ten genes involved in dementia on a cohort of 20 EOAD and 20 LOAD cases. We found five rare coding variants (frequency
ISSN:0197-4580
1558-1497
DOI:10.1016/j.neurobiolaging.2016.01.134