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Article

A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease.

Neurogenetics - 1 Jul 2009

Cazeneuve Cécile, Sân Channkanira, Ibrahim Salah A, Mukhtar Maowia M, Kheir Musa M, Leguern Eric, Brice Alexis, Salih Mustafa A

Abstract excerpt

PARK2 and PINK1 gene mutations are involved in recessive early onset Parkinson's disease (EOPD). In order to determine the causative mutations in three affected sibs from a consanguineous Sudanese family with EOPD, multiplex ligation-dependent probe amplification was performed and revealed that the patients were homozygous for a deletion of PINK1 exons 4 to 8. Breakpoint analysis revealed a complex rearrangement...

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Source

Identifiers

PMID: 19214605
DOI: 10.1007/s10048-009-0174-4

Genes

PINK1
DDOST

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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