De novo seven extra repeat expanded mutation in the PRNP gene in an italian patient with early onset dementia

M. Cannella, Tiziana Martino, Maria Simonelli, Andrea Ciammola, Roberto Gradini, Andrea Ciarmiello, Fernando Gianfrancesco, Ferdinando Squitieri

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Point and octapeptide repeat (24 bp) insertional mutations in the prion protein gene (PRNP) cause a dominantly transmitted dementia, associated with spongiform degeneration of the brain, astrocytic gliosis and neuronal loss due to cell accumulation of mutated protease resistant prion protein. The octapeptide repeat region lies between codon 51 and 91, and comprises a nonapeptide followed by a tandem repeat containing four copies of an octapeptide. The normal tandem length in healthy individuals is five repeats R1-R2-R2-R3-R4, but mutations can contain up to nine additional extra repeats. Some insight into this genetic mechanism comes from the de novo meiotic insertional extra repeat mutation in PRNP we detected in a patient whose parents had a normal phenotype and a wild-type sequence in the same gene. To our knowledge, this is the first time this condition has been described.

Original languageEnglish
JournalBMJ Case Reports
DOIs
Publication statusPublished - Feb 2 2009

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Dementia
Mutation
Genes
Tandem Repeat Sequences
Gliosis
Codon
Peptide Hydrolases
Parents
Phenotype
Brain
Prion Proteins
recombinant FVIIa

ASJC Scopus subject areas

  • Medicine(all)

Cite this

De novo seven extra repeat expanded mutation in the PRNP gene in an italian patient with early onset dementia. / Cannella, M.; Martino, Tiziana; Simonelli, Maria; Ciammola, Andrea; Gradini, Roberto; Ciarmiello, Andrea; Gianfrancesco, Fernando; Squitieri, Ferdinando.

In: BMJ Case Reports, 02.02.2009.

Research output: Contribution to journalArticle

Cannella, M. ; Martino, Tiziana ; Simonelli, Maria ; Ciammola, Andrea ; Gradini, Roberto ; Ciarmiello, Andrea ; Gianfrancesco, Fernando ; Squitieri, Ferdinando. / De novo seven extra repeat expanded mutation in the PRNP gene in an italian patient with early onset dementia. In: BMJ Case Reports. 2009.
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