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Article

Novel THAP1 sequence variants in primary dystonia.

Neurology - 19 Jan 2010

Xiao J, Zhao Y, Bastian R W, Perlmutter J S, Racette B A, Tabbal S D, Karimi M, Paniello R C, Wszolek Z K, Uitti R J, Van Gerpen J A, Simon D K, Tarsy D, Hedera P, Truong D D, Frei K P, Dev Batish S, Blitzer A, Pfeiffer R F, Gong S, LeDoux M S

Abstract excerpt

BACKGROUND: THAP1 encodes a transcription factor (THAP1) that harbors an atypical zinc finger domain and regulates cell proliferation. An exon 2 insertion/deletion frameshift mutation in THAP1 is responsible for DYT6 dystonia in Amish-Mennonites. Subsequent screening efforts in familial, mainly early-onset, primary dystonia identified additional THAP1 sequence variants in non-Amish subjects. OBJECTIVE: To examine...

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Identifiers

PMID: 20083799
DOI: 10.1212/WNL.0b013e3181ca00ca
PMCID: PMC2809032

Genes

THAP1

Variants

Provenance

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Related research

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Homozygous THAP1 pathogenic variant causes early onset multifocal dystonia with severe oromandibular/laryngeal dysfunction.Semantic proximity Read ↗

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