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Linkage of familial essential tremor to chromosome 5q35
Author(s) -
Hicks James E.,
Konidari Ioanna,
Scott Burton L.,
Stajich Jeffrey M.,
AshleyKoch Allison E.,
Gilbert John R.,
Scott William K.
Publication year - 2016
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.26582
Subject(s) - essential tremor , genetics , locus (genetics) , exome sequencing , genetic linkage , pedigree chart , biology , linkage (software) , exome , computational biology , neuroscience , gene , phenotype
Background Essential tremor is a neurological condition characterized by tremor during voluntary movement. To date, 3 loci linked to familial essential tremor have been identified. Methods We examined 48 essential tremor patients in 5 large essential tremor pedigrees in our data set for genetic linkage using an Affymetrix Axiom array. Linkage analysis was performed using an affecteds‐only dominant model in SIMWALK2. To incorporate all genotype information, GERMLINE was used to identify genome segments shared identical‐by‐descent in pairs of affecteds. Exome sequencing was performed in pedigrees showing evidence of linkage. Results For one family, chromosomes 5 and 18 showed genome‐wide significant linkage to essential tremor. Shared segment analysis excluded the 18p11 candidate region and reduced the 5q35 region by 1 megabase. Exome sequencing did not identify a potential causative variant in this region. Conclusion A locus on chromosome 5 is linked to essential tremor. Further research is needed to identify a causative variant. © 2016 International Parkinson and Movement Disorder Society