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  • Title: Progranulin mutation analysis: Identification of one novel mutation in exon 12 associated with frontotemporal dementia.
    Author: Aswathy PM, Jairani PS, Raghavan SK, Verghese J, Gopala S, Srinivas P, Mathuranath PS.
    Journal: Neurobiol Aging; 2016 Mar; 39():218.e1-3. PubMed ID: 26724960.
    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.
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