Identification of a large homozygous VPS13C deletion in a patient with early-onset Parkinsonism

Hossein Darvish¹, Paloma Bravo², Abbas Tafakhori³, Luis J Azcona^{2

4}, Sakineh Ranji-Burachaloo³, Amir Hossein Johari¹, Coro Paisán-Ruiz^{2

5

6

7

8}

Affiliations

¹ Department of Medical Genetics, Semnan University of Medical Sciences, Semnan, Iran.
² Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L, New York, New York, USA.
³ Iranian Center of Neurological Research, Neuroscience institute, Tehran University of Medical Sciences, Tehran, Iran.
⁴ Department of Neurosciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
⁵ Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
⁶ Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
⁷ The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
⁸ The Friedman Brain and Mindich Child Health and Development Institutes, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Hossein Darvish et al. Mov Disord. 2018 Dec.

. 2018 Dec;33(12):1968-1970.

doi: 10.1002/mds.27516. Epub 2018 Nov 19.

Hossein Darvish¹, Paloma Bravo², Abbas Tafakhori³, Luis J Azcona^{2

4}, Sakineh Ranji-Burachaloo³, Amir Hossein Johari¹, Coro Paisán-Ruiz^{2

5

6

7

8}

¹ Department of Medical Genetics, Semnan University of Medical Sciences, Semnan, Iran.
² Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L, New York, New York, USA.
³ Iranian Center of Neurological Research, Neuroscience institute, Tehran University of Medical Sciences, Tehran, Iran.
⁴ Department of Neurosciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
⁵ Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
⁶ Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
⁷ The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
⁸ The Friedman Brain and Mindich Child Health and Development Institutes, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

No abstract available

Keywords: VPS13C; early-onset parkinsonism; genomic deletion; polyneuropathy.

Conflict of interest statement

Financial disclosure/conflict of interest:

The authors declare they have no conflict of interest.

1. Schormair B, Kemlink D, Mollenhauer B, et al. Diagnostic exome sequencing in early-onset Parkinson’s disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson’s disease. Clin Genet 2018;93(3):603–612. - PubMed
1. Lesage S, Drouet V, Majounie E, et al. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. Am J Hum Genet 2016;98(3):500–513. - PMC - PubMed
1. Sanchez E, Darvish H, Mesias R, et al. Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism. Hum Mutat 2016;37(11):1180–1189. - PMC - PubMed
1. Kaer K, Speek M. Retroelements in human disease. Gene 2013;518(2):231–241. - PubMed
1. Lupski JR, Stankiewicz P. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 2005;1(6):e49. - PMC - PubMed