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Progranulin mutation analysis: Identification of one novel mutation in exon 12 associated with frontotemporal dementia.

Abstract：

:Progranulin (PGRN) mutations account for an average of 15% of familial frontotemporal dementia (FTD) cases and 20% of total FTD cases worldwide. Here, we investigated the frequency of PGRN mutations in FTD patients (n = 116) from a clinical cohort of south India and detected one novel mutation located on exon 12 in a familial behavioral variant FTD patient (accounting for ∼1% of total FTD cases and 6% of familial FTD cases). This mutation was found to introduce a premature termination codon and the prematurely terminated messenger RNA may probably undergo nonsense-mediated decay. In enzyme-linked immunosorbent assay, the proband showed significantly reduced level of plasma PGRN (28 ng/mL) compared with controls (150 ± 38 ng/mL), which implicates haploinsufficiency as the pathogenic mechanism.

journal_name

Neurobiol Aging

journal_title

Neurobiology of aging

authors

Aswathy PM,Jairani PS,Raghavan SK,Verghese J,Gopala S,Srinivas P,Mathuranath PS

doi

10.1016/j.neurobiolaging.2015.11.026

subject

Has Abstract

pub_date

2016-03-01 00:00:00

pages

218.e1-3

eissn

0197-4580

issn

1558-1497

pii

S0197-4580(15)00599-0

journal_volume

39

pub_type

杂志文章

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