Evaluating the role of TMEM230 variants in Parkinson's disease

Hauke Baumann; Simone Wolff; Alexander Münchau; Johann M. Hagenah; Katja Lohmann; Christine Klein

doi:10.1016/j.parkreldis.2016.12.015

Evaluating the role of TMEM230 variants in Parkinson's disease

Hauke Baumann, Simone Wolff, Alexander Münchau, Johann M. Hagenah, Katja Lohmann^*, Christine Klein

^*Corresponding author for this work

10 Citations (Scopus)

Abstract

Recently, mutations in TMEM230 were reported as a novel cause of autosomal dominant Parkinson's disease (PD) [1]. In a large Mennonite family with Lewy-body-confirmed PD, a missense mutation (p.R141L) was found in all 13 tested patients [1]. Further screening of >1400 PD patients from North America and China revealed three additional mutations (p.Y92C, p.*184Wext*5, p.*184PGext*5) in 11 patients including a recurrent mutation in 9/574 Chinese patients [1]. The authors excluded these mutations in a large series of their own controls (n > 1500) by Sanger sequencing and in exome data of ∼10,000 Chinese neurologically normal controls and of >60,000 individuals of the Exome Aggregation Consortium (ExAC).

Original language	English
Journal	Parkinsonism and Related Disorders
Volume	35
Pages (from-to)	100-101
Number of pages	2
ISSN	1353-8020
DOIs	https://doi.org/10.1016/j.parkreldis.2016.12.015
Publication status	Published - 01.02.2017

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Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.parkreldis.2016.12.015

Cite this

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title = "Evaluating the role of TMEM230 variants in Parkinson's disease",

abstract = "Recently, mutations in TMEM230 were reported as a novel cause of autosomal dominant Parkinson's disease (PD) [1]. In a large Mennonite family with Lewy-body-confirmed PD, a missense mutation (p.R141L) was found in all 13 tested patients [1]. Further screening of >1400 PD patients from North America and China revealed three additional mutations (p.Y92C, p.*184Wext*5, p.*184PGext*5) in 11 patients including a recurrent mutation in 9/574 Chinese patients [1]. The authors excluded these mutations in a large series of their own controls (n > 1500) by Sanger sequencing and in exome data of ∼10,000 Chinese neurologically normal controls and of >60,000 individuals of the Exome Aggregation Consortium (ExAC). ",

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AU - Baumann, Hauke

AU - Wolff, Simone

AU - Münchau, Alexander

AU - Hagenah, Johann M.

AU - Lohmann, Katja

AU - Klein, Christine

PY - 2017/2/1

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N2 - Recently, mutations in TMEM230 were reported as a novel cause of autosomal dominant Parkinson's disease (PD) [1]. In a large Mennonite family with Lewy-body-confirmed PD, a missense mutation (p.R141L) was found in all 13 tested patients [1]. Further screening of >1400 PD patients from North America and China revealed three additional mutations (p.Y92C, p.*184Wext*5, p.*184PGext*5) in 11 patients including a recurrent mutation in 9/574 Chinese patients [1]. The authors excluded these mutations in a large series of their own controls (n > 1500) by Sanger sequencing and in exome data of ∼10,000 Chinese neurologically normal controls and of >60,000 individuals of the Exome Aggregation Consortium (ExAC).

AB - Recently, mutations in TMEM230 were reported as a novel cause of autosomal dominant Parkinson's disease (PD) [1]. In a large Mennonite family with Lewy-body-confirmed PD, a missense mutation (p.R141L) was found in all 13 tested patients [1]. Further screening of >1400 PD patients from North America and China revealed three additional mutations (p.Y92C, p.*184Wext*5, p.*184PGext*5) in 11 patients including a recurrent mutation in 9/574 Chinese patients [1]. The authors excluded these mutations in a large series of their own controls (n > 1500) by Sanger sequencing and in exome data of ∼10,000 Chinese neurologically normal controls and of >60,000 individuals of the Exome Aggregation Consortium (ExAC).

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Evaluating the role of TMEM230 variants in Parkinson's disease

Abstract

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