Mutations

MAPT IVS9-10 G>T (g(-10)t)

Overview

Pathogenicity: Frontotemporal Dementia : Pathogenic
Clinical Phenotype: Frontotemporal Dementia
Reference Assembly: GRCh37 (105)
Position: Chr17:44087666 G>T
dbSNP ID: rs63749974
Coding/Non-Coding: Non-Coding
Mutation Type: Point
Codon Change: G to T
Genomic Region: Intron 9

Findings

This mutation was first described in two siblings who began to experience progressive cognitive decline, personality changes, and behavioral disturbances at ages 49 and 38. The mutation segregated with disease; it was present in their affected father but absent in two unaffected siblings. The variant is upstream of exon 10, 10 nucleotides into intron 9, and was designated g(−10)t (Malkani et al., 2006).

Neuropathology

Unknown.

Biological Effect

This point mutation is in an intronic region (IVS9) and strengthens the splice acceptor site such that exon 10 is preferentially included in mRNA transcipts, resulting in elevated 4-repeat (4R) tau isoforms (Malkani et al., 2006).

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References

Paper Citations

  1. . A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia. Neurobiol Dis. 2006 May;22(2):401-3. Epub 2006 Feb 28 PubMed.

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Protein Diagram

Primary Papers

  1. . A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia. Neurobiol Dis. 2006 May;22(2):401-3. Epub 2006 Feb 28 PubMed.

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