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Article

Rare exonic variant affects GRN splicing and contributes to frontotemporal lobar degeneration.

Neurobiology of aging - 1 Oct 2023

Wauters Eline, Gossye Helena, Frydas Alexandros, Sieben Anne, Van Broeckhoven Christine

Abstract excerpt

Heterozygous loss-of-function (LOF) mutations in the progranulin gene (GRN) cause frontotemporal lobar degeneration (FTLD) by a mechanism of haploinsufficiency. For most missense mutations, the contribution to FTLD is however unclear. We studied the pathogenicity of rare GRN missense mutations using patient biomaterials. We identified a new mutation in GRN, c.1178 A>C, in a patient with a diagnosis of primary...

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PMID: 37459659
DOI: 10.1016/j.neurobiolaging.2023.06.009

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