Unknown

Dataset Information

0

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

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.

SUBMITTER: Cannella M 

PROVIDER: S-EPMC3029391 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

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

Cannella M M   Martino Tiziana T   Simonelli Maria M   Ciammola Andrea A   Gradini Roberto R   Ciarmiello Andrea A   Gianfrancesco Fernando F   Squitieri Ferdinando F  

BMJ case reports 20090202

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  ...[more]

Similar Datasets

Unknown De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia.
| S-EPMC2095619 | biostudies-literature
Unknown Extra-Pulmonary Vein Triggers at <i>de novo</i> and the Repeat Atrial Fibrillation Catheter Ablation.
| S-EPMC8600078 | biostudies-literature
Unknown De novo repeat classification and fragment assembly.
| S-EPMC515325 | biostudies-literature
Unknown Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
| S-EPMC6454923 | biostudies-literature
Unknown Case Report: Histopathology and Prion Protein Molecular Properties in Inherited Prion Disease With a <i>De Novo</i> Seven-Octapeptide Repeat Insertion.
| S-EPMC7362343 | biostudies-literature
Unknown REPdenovo: Inferring De Novo Repeat Motifs from Short Sequence Reads.
| S-EPMC4792456 | biostudies-literature
Unknown De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
| S-EPMC5544417 | biostudies-literature
Unknown de novo MAPT mutation G335A causes severe brain atrophy, 3R and 4R PHF-tau pathology and early onset frontotemporal dementia.
| S-EPMC7325098 | biostudies-literature
Unknown Hybrid de novo tandem repeat detection using short and long reads.
| S-EPMC4582210 | biostudies-literature
Unknown Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration.
| S-EPMC3651485 | biostudies-other