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

Content Provider	Springer Nature Link
Author	Cazeneuve, Cécile Sân, Channkanira Ibrahim, Salah A. Mukhtar, Maowia M. Kheir, Musa M. LeGuern, Eric Brice, Alexis Salih, Mustafa A.
Copyright Year	2009
Abstract	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 combining a large deletion and the insertion of a sequence duplicated from the DDOST gene intron 2, located near the PINK1 gene. As breakpoint sequences displayed only three base pairs of homology, this rearrangement may result from Fork Stalling and Template Switching mechanism. This third large rearrangement of PINK1 enlarges the mutation spectrum and, together with recent published data in Tunisian patients with EOPD, points out that PINK1 gene analysis, including search for large rearrangement, should be considered in early onset recessive PD patients, particularly those from Arab origin.
Starting Page	265
Ending Page	270
Page Count	6
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	10
Issue Number	3
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2009-02-12
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Early onset Parkinson’s disease Autosomal recessive PINK1 PARK6 Complex rearrangement Fork Stalling and Template Switching Neurosciences Molecular Medicine Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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Analysis of the PINK1 Gene in a Large Cohort of Cases With Parkinson Disease

Pink1 type of Early Onset Parkinson’s disease(EOPD)in Sudanese patients, 2018

Localization of a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, PARK6, on Human Chromosome 1p35-p36

Early Onset Parkinson’s Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: a case report

Autosomal Recessive Causes Likely in Early-Onset Alzheimer Disease

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia

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

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