PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson's disease

Peng Wang; Yi Guo; Chengyuan Song; Yiming Liu; Hao Deng

doi:10.1016/j.neulet.2018.04.020

PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson's disease

Neurosci Lett. 2018 May 29:676:98-102. doi: 10.1016/j.neulet.2018.04.020. Epub 2018 Apr 12.

Authors

Peng Wang¹, Yi Guo², Chengyuan Song³, Yiming Liu⁴, Hao Deng⁵

Affiliations

¹ Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.
² Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China; Information Security and Big Data Research Institute, Central South University, Changsha, China.
³ Department of Neurology, The Qilu Hospital, Shandong University, Jinan, China.
⁴ Department of Neurology, The Qilu Hospital, Shandong University, Jinan, China. Electronic address: liuym@sdu.edu.cn.
⁵ Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China. Electronic address: hdeng008@yahoo.com.

PMID: 29655942
DOI: 10.1016/j.neulet.2018.04.020

Abstract

Parkinson's disease (PD) features selective loss of dopaminergic neurons of the substantia nigra pars compacta accompanied by the accumulation and aggregation of alpha-synuclein in Lewy bodies. PTEN induced putative kinase 1 gene (PINK1) mutations are the second most common genetic cause of autosomal recessive early-onset Parkinson's disease (EOPD). A single nucleotide deletion in PINK1 exon 8 (c.1557delG) was identified in a consanguineous Chinese family with EOPD. The homozygous deletion was co-segregated with disease in the family and resulted in a frameshift after codon 520 with a premature termination at codon 522 (p.K520RfsX3). These findings have significant implications on genetic counseling for the family and may be helpful in considering potential pathogenesis-targeted and disease-modifying strategies which should further improve patient quality of life.

Keywords: Autosomal recessive early-onset Parkinson’s disease; Homozygous; Mutation; PINK1; Parkinson’s disease.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Asian People / genetics
China / epidemiology
DNA Mutational Analysis
Female
Frameshift Mutation*
Genetic Predisposition to Disease*
Humans
Male
Parkinsonian Disorders / genetics*
Pedigree
Polymorphism, Single Nucleotide
Protein Kinases / genetics*

Substances

Protein Kinases
PTEN-induced putative kinase