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A cluster of progranulin C157KfsX97 mutations in Southern Italy: clinical characterization and genetic correlations

Coppola, Cinzia et al.

NEUROBIOLOGY OF AGING. Volume 49 (2017); pp 219.e5-219.e13

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  • Title:
    A cluster of progranulin C157KfsX97 mutations in Southern Italy: clinical characterization and genetic correlations
  • Author: Coppola, Cinzia;
    Saracino, Dario;
    Puoti, Gianfranco;
    Lus, Giacomo;
    Dato, Clemente;
    Le Ber, Isabelle;
    Pariente, Jeremie;
    Caroppo, Paola;
    Piccoli, Elena;
    Tagliavini, Fabrizio;
    Di Iorio, Giuseppe;
    Rossi, Giacomina
  • Found In: NEUROBIOLOGY OF AGING. Volume 49 (2017); pp 219.e5-219.e13
  • Journal Title: NEUROBIOLOGY OF AGING
  • Subjects: Frontotemporal lobar degeneration--Corticobasal syndrome--GRN--Progranulin protein--Mutation--Founder effect; Dewey: 612.8
  • Rights: Licensed
  • Abstract: Abstract Frontotemporal lobar degeneration (FTLD) is a group of neurodegenerative diseases displaying high clinical, pathologic, and genetic heterogeneity. Several autosomal dominant progranulin ( GRN ) mutations have been reported, accounting for 5%–10% of FTLD cases worldwide. In this study, we described the clinical characteristics of 7 Italian patients, 5 with a diagnosis of frontotemporal dementia behavioral variant and 2 of corticobasal syndrome (CBS), carrying the GRN deletion g.101349_101355delCTGCTGT, resulting in the C157KfsX97 null mutation, and hypothesized the existence of a founder effect by means of haplotype sharing analysis. We performed plasma progranulin dosage, GRN gene sequencing, and haplotype sharing study, analyzing 10 short tandem repeat markers, spanning a region of 11.08 Mb flanking GRN on chromosome 17q21. We observed shared alleles among 6 patients for 8 consecutive short tandem repeat markers spanning a 7.29 Mb region. Therefore, also with this particular mutation, the elevated clinical variability described among GRN -mutated FTLD cases is confirmed. Moreover, this is the first study reporting the likely existence of a founder effect for C157KfsX97 mutation in Southern Italy.
  • Identifier: System Number: ETOCvdc_100053509974.0x000001; Journal ISSN: 0197-4580; doi/10.1016/j.neurobiolaging.2016.10.008
  • Publication Date: 2017
  • Physical Description: Electronic
  • Shelfmark(s): 6081.311000
  • UIN: ETOCvdc_100053509974.0x000001

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