2015
DOI: 10.1016/j.ajhg.2015.04.008
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A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

Abstract: Myoclonus-dystonia (M-D) is a rare movement disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. SGCE mutations represent a major cause for familial M-D being responsible for 30%-50% of cases. After excluding SGCE mutations, we identified through a combination of linkage analysis and whole-exome sequencing KCTD17 c.434 G>A p.(Arg145His) as the only segregating variant in a dominant British pedigree with seven subjects affected by M-D. A subsequent screening in a cohort of M-D … Show more

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Cited by 118 publications
(88 citation statements)
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“…Whole-exome sequencing data were generated for 181 sIBM DNA samples as previously described (Mencacci et al., 2015). In this study, we used a candidate gene approach on these whole-exome sequencing data to investigate variants in SQSTM1 and VCP genes.…”
Section: Methodsmentioning
confidence: 99%
“…Whole-exome sequencing data were generated for 181 sIBM DNA samples as previously described (Mencacci et al., 2015). In this study, we used a candidate gene approach on these whole-exome sequencing data to investigate variants in SQSTM1 and VCP genes.…”
Section: Methodsmentioning
confidence: 99%
“…The successful combination of linkage analysis and exome sequencing was recently demonstrated by the identification of the disease genes for DYT23 and DYT26 (35, 36). In DYT23, a p.Arg1389His variant in CACNA1B encoding the voltage-gated calcium channel Cav2.2 was reported to cause MD plus in a large Dutch family.…”
Section: Examples Of Combined Dystonia (Previously “Dystonia-plus” Symentioning
confidence: 99%
“…For example, an amino acid-changing mutation was identified in KCTD17 as the only exonic variant segregating in a dominant pedigree with 7 individuals affected by myoclonus-dystonia [77]. On the other hand, in vitro models such as using cell lines to demonstrate functional effects have also been commonly employed.…”
Section: Diagnostic Applicationsmentioning
confidence: 99%