Get access

Pseudo-heterozygous rearrangement mutation of parkin

Authors

  • Manabu Funayama PhD,

    Corresponding author
    1. Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan
    2. Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
    • Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan

    Search for more papers by this author
  • Hiroyo Yoshino PhD,

    1. Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan
    Search for more papers by this author
  • Yuanzhe Li MD, PhD,

    1. Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan
    Search for more papers by this author
  • Hiromichi Kusaka DB,

    1. Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
    Search for more papers by this author
  • Hiroyuki Tomiyama MD, PhD,

    1. Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
    2. Department of Neuroscience for Neurodegenerative Disorders, Juntendo University School of Medicine, Tokyo, Japan
    Search for more papers by this author
  • Nobutaka Hattori MD, PhD

    Corresponding author
    1. Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan
    2. Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
    3. Department of Neuroscience for Neurodegenerative Disorders, Juntendo University School of Medicine, Tokyo, Japan
    • Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan

    Search for more papers by this author

  • Relevant conflicts of interest/financial disclosures: Nothing to report.

  • Full financial disclosures and author roles may be found in the online version of this article.

Abstract

Background:

Mutations in parkin are the most frequent cause of autosomal recessive parkinsonism. Quantitative PCR is used to detect parkin rearrangements. However, the method has an inherent problem—deletion and duplication in the same allelic exon could be determined as normal. To present this misidentification, we report a family with compound heterozygous rearrangements in parkin.

Methods:

A patient with early-onset parkinsonism and the parents were investigated by quantitative PCR, haplotype analysis, reverse-transcription PCR, and direct sequencing.

Results:

A single heterozygous duplication (duplication of exons 6–7) was identified in the patient by quantitative PCR. Detailed analysis of the family revealed the patient carried compound heterozygous of combined deletion (deletion of exons 3–5) and duplication (duplication of exons 3–7).

Conclusions:

For correct determination of rearrangement mutation, mutation analysis of the patient as well as other family members and/or break-point analysis of genomic DNA and at the transcript level should be conducted. © 2012 Movement Disorder Society

Ancillary