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Article

Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early-onset Parkinson's disease.

Parkinsonism & related disorders - 1 Aug 2008

Savettieri Giovanni, Annesi Grazia, Civitelli Donatella, Cirò Candiano Innocenza Claudia, Salemi Giuseppe, Ragonese Paolo, Annesi Ferdinanda, Tarantino Patrizia, Terruso Valeria, D'Amelio Marco, Quattrone Aldo

Abstract excerpt

Herein we first describe a novel homozygous single nucleotide deletion in PINK1 exon 4 (889delG) which results in a loss of kinase domain on the PINK1 protein (D297fsX318). This mutation was identified in two brothers with early-onset Parkinson disease (EOPD) from a Sicilian consanguineous family...

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Source

Identifiers

PMID: 18329316
DOI: 10.1016/j.parkreldis.2007.10.014

Genes

PINK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18329316-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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