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Despite strong evidence for genetic contributions to BSP<\/jats:styled-content>, progress in the field has been constrained by small cohorts, incomplete penetrance, and late age of onset. Although several genetic etiologies for dystonia have been identified through whole\u2010exome sequencing (WES<\/jats:styled-content>), none of these are characteristically associated with BSP<\/jats:styled-content> as a singular or predominant manifestation.<\/jats:p><\/jats:sec>Methods<\/jats:title>We performed WES<\/jats:styled-content> on 31 subjects from 21 independent pedigrees with BSP<\/jats:styled-content>. The strongest candidate sequence variants derived from in silico<\/jats:italic> analyses were confirmed with bidirectional Sanger sequencing and subjected to cosegregation analysis.<\/jats:p><\/jats:sec>Results<\/jats:title>Cosegregating deleterious variants (GRCH<\/jats:styled-content>37\/hg19) in CACNA<\/jats:styled-content>1A<\/jats:italic> (NM_001127222.1<\/jats:ext-link>: c.7261_7262delinsGT<\/jats:styled-content>, p.Pro2421Val), REEP<\/jats:styled-content>4<\/jats:italic> (NM_025232.3<\/jats:ext-link>: c.109C>T, p.Arg37Trp), TOR<\/jats:styled-content>2A<\/jats:italic> (NM_130459.3<\/jats:ext-link>: c.568C>T, p.Arg190Cys),<\/jats:italic> and ATP<\/jats:styled-content>2A3<\/jats:italic> (NM_005173.3<\/jats:ext-link>: c.1966C>T, p.Arg656Cys) were identified in four independent multigenerational pedigrees. Deleterious variants in HS<\/jats:styled-content>1BP<\/jats:styled-content>3<\/jats:italic> (NM_022460.3<\/jats:ext-link>: c.94C>A, p.Gly32Cys) and GNA<\/jats:styled-content>14<\/jats:italic> (NM_004297.3<\/jats:ext-link>: c.989_990del, p.Thr330ArgfsTer67) were identified in a father and son with segmental cranio\u2010cervical dystonia first manifest as BSP<\/jats:styled-content>. Deleterious variants in DNAH<\/jats:styled-content>17<\/jats:italic>, TRPV<\/jats:styled-content>4<\/jats:italic>, CAPN<\/jats:styled-content>11<\/jats:italic>, VPS<\/jats:styled-content>13C<\/jats:italic>, UNC<\/jats:styled-content>13B<\/jats:italic>, SPTBN<\/jats:styled-content>4<\/jats:italic>, MYOD<\/jats:styled-content>1<\/jats:italic>, and MRPL<\/jats:styled-content>15<\/jats:italic> were found in two or more independent pedigrees. To our knowledge, none of these genes have previously been associated with isolated BSP<\/jats:styled-content>, although other CACNA<\/jats:styled-content>1A<\/jats:italic> mutations have been associated with both positive and negative motor disorders including ataxia, episodic ataxia, hemiplegic migraine, and dystonia.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>Our WES<\/jats:styled-content> datasets provide a platform for future studies of BSP<\/jats:styled-content> genetics which will demand careful consideration of incomplete penetrance, pleiotropy, population stratification, and oligogenic inheritance patterns.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.411","type":"journal-article","created":{"date-parts":[[2018,5,17]],"date-time":"2018-05-17T01:35:08Z","timestamp":1526520908000},"page":"601-626","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Whole\u2010exome sequencing for variant discovery in blepharospasm"],"prefix":"10.1002","volume":"6","author":[{"given":"Jun","family":"Tian","sequence":"first","affiliation":[{"name":"Departments of Neurology and Anatomy and Neurobiology University of Tennessee Health Science Center Memphis Tennessee"},{"name":"Department of Neurology Second Affiliated Hospital School of Medicine Zhejiang University Hangzhou Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0858-7913","authenticated-orcid":false,"given":"Satya R.","family":"Vemula","sequence":"additional","affiliation":[{"name":"Departments of Neurology and Anatomy and Neurobiology University of Tennessee Health Science Center Memphis Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianfeng","family":"Xiao","sequence":"additional","affiliation":[{"name":"Departments of Neurology and Anatomy and Neurobiology University of Tennessee Health Science Center Memphis 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