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• W2158606007 abstract "<b>Background:</b> Genetic linkage studies have identified two susceptibility loci for essential tremor (ET) on chromosomes 3q13 (<i>ETM1</i>) and 2p24.1 (<i>ETM2</i>). Linkage disequilibrium studies in separate population samples from the United States and Singapore suggest an association between ET and loci at <i>ETM2</i>. <b>Methods:</b> Fine mapping studies were conducted on multiplex and singleton US families linked to <i>ETM2</i> using newly detected loci within the candidate interval to establish the minimal critical region (MCR) harboring an ET gene. The genes and transcripts within this interval were systematically analyzed by single-strand conformational polymorphism analysis and DNA sequencing. <b>Results:</b> A 464-kb region between loci <i>D2S2150</i> and <i>etm1231</i> was defined as the MCR. The coding regions and flanking intronic splice sites of two genes and seven transcripts in this interval were evaluated for mutations. A missense mutation (828C→G) in the transcript <i>FLJ14249</i> (<i>HS1-BP3</i>) was identified in one US family. This mutation was found in another apparently unrelated US family with ET and was absent in 150 control samples (300 chromosomes). The 828C→G mutation causes a substitution of a glycine for an alanine residue in the HS1-BP3 protein. The HS1-BP3 protein binds to proteins that are highly expressed in motor neurons and Purkinje cells and regulate the Ca²⁺/calmodulin-dependent protein kinase activation of tyrosine and tryptophan hydroxylase. <b>Conclusions:</b> A rare variant in the <i>HS1-BP3</i> gene that is associated with essential tremor (ET) in two families is reported. This finding will facilitate research on the functional role of this gene and related genes in the pathogenesis of ET." @default.
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• W2158606007 date "2005-02-07" @default.
• W2158606007 modified "2023-10-14" @default.
• W2158606007 title "A variant in the HS1-BP3 gene is associated with familial essential tremor" @default.
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• W2158606007 doi "https://doi.org/10.1212/01.wnl.0000153481.30222.38" @default.
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