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Reza Sailani, M.* ; Jahanbani, F.* ; Abbott, C.W.* ; Lee, H.* ; Zia, A.* ; Rego, S.* ; Winkelmann, J. ; Hopfner, F.* ; Khan, T.N.* ; Katsanis, N.* ; Müller, S.H.* ; Berg, D.* ; Lyman, K.M.* ; Mychajliw, C.* ; Deuschl, G.* ; Bernstein, J.A.* ; Kuhlenbäumer, G.* ; Snyder, M.P.*

Candidate variants in TUB are associated with familial tremor.

PLoS Genet. 16:e1009010 (2020)

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Author summary Essential tremor (ET) is the most common adult-onset movement disorder and in most affected families it appears to be inherited in an autosomal dominant pattern. The causes of essential tremor are unknown. Although many genetic studies in affected families and sporadic cases of ET have shown that genes may play a role, it has proven quite challenging to identify the specific genetic variants involved. Here, we use state-of-the-art technologies to identify the role of genetic variants on ET through exome sequencing of a large affected ET family and subsequent validation in a large population of cases and controls. We show that rare nonsynonymous variants of theTUBgene are significantly enriched in ET cases versus healthy controls. Further studies of biological pathways regulated by TUB in the mouse brain reveal key pathways related to ET. Our work expands our knowledge of the genetic basis of ET.Essential tremor (ET) is the most common adult-onset movement disorder. In the present study, we performed whole exome sequencing of a large ET-affected family (10 affected and 6 un-affected family members) and identified aTUBp.V431I variant (rs75594955) segregating in a manner consistent with autosomal-dominant inheritance. Subsequent targeted re-sequencing ofTUBin 820 unrelated individuals with sporadic ET and 630 controls revealed significant enrichment of rare nonsynonymousTUBvariants (e.g. rs75594955: p.V431I, rs1241709665: p.Ile20Phe, rs55648406: p.Arg49Gln) in the ET cohort (SKAT-O test p-value = 6.20e-08).TUBencodes a transcription factor predominantly expressed in neuronal cells and has been previously implicated in obesity. ChIP-seq analyses of the TUB transcription factor across different regions of the mouse brain revealed that TUB regulates the pathways responsible for neurotransmitter production as well thyroid hormone signaling. Together, these results support the association of rare variants inTUBwith ET.

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