A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene.
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Date
2021-10-01ICR Author
Author
Olszewska, DA
Fearon, C
McGuigan, C
McVeigh, TP
Houlden, H
Polke, JM
Lawlor, B
Coen, R
Hutchinson, M
Hutton, M
Beausang, A
Delon, I
Brett, F
Sevastou, I
Seto-Salvia, N
de Silva, R
Lynch, T
Type
Journal Article
Metadata
Show full item recordAbstract
We report the first clinical-radiological-genetic-molecular-pathological study of a kindred with c.823-10G>T MAPT intronic variant (rs63749974) associated with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). We describe the clinical spectrum within this family and emphasize the association between MAPT gene variants and motor neuron disease. This report of a second family with FTDP-17 associated with c.823-10G>T MAPT variant strongly supports pathogenicity of the variant and confirms it is a 4-repeat (4R) tauopathy. This intronic point mutation, probably strengthens the polypyrimidine tract and alters the splicing of exon 10 (10 nucleotides into intron 9) close to the 3' splice site.
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Language
eng
Date accepted
2021-05-13
Citation
Neurobiology of Aging, 2021
Publisher
ELSEVIER SCIENCE INC