Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.

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Serval ID
serval:BIB_38FC7D72437D
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.
Journal
Human Molecular Genetics
Author(s)
Hor H., Francescatto L., Bartesaghi L., Ortega-Cubero S., Kousi M., Lorenzo-Betancor O., Jiménez-Jiménez F.J., Gironell A., Clarimón J., Drechsel O., Agúndez J.A., Kenzelmann Broz D., Chiquet-Ehrismann R., Lleó A., Coria F., García-Martin E., Alonso-Navarro H., Martí M.J., Kulisevsky J., Hor C.N., Ossowski S., Chrast R., Katsanis N., Pastor P., Estivill X.
ISSN
1460-2083 (Electronic)
ISSN-L
0964-6906
Publication state
Published
Issued date
2015
Peer-reviewed
Oui
Volume
24
Number
20
Pages
5677-5686
Language
english
Notes
Publication types: Journal ArticlePublication Status: ppublish
Abstract
Essential tremor (ET) is a common movement disorder with an estimated prevalence of 5% of the population aged over 65 years. In spite of intensive efforts, the genetic architecture of ET remains unknown. We used a combination of whole-exome sequencing and targeted resequencing in three ET families. In vitro and in vivo experiments in oligodendrocyte precursor cells and zebrafish were performed to test our findings. Whole-exome sequencing revealed a missense mutation in TENM4 segregating in an autosomal-dominant fashion in an ET family. Subsequent targeted resequencing of TENM4 led to the discovery of two novel missense mutations. Not only did these two mutations segregate with ET in two additional families, but we also observed significant over transmission of pathogenic TENM4 alleles across the three families. Consistent with a dominant mode of inheritance, in vitro analysis in oligodendrocyte precursor cells showed that mutant proteins mislocalize. Finally, expression of human mRNA harboring any of three patient mutations in zebrafish embryos induced defects in axon guidance, confirming a dominant-negative mode of action for these mutations. Our genetic and functional data, which is corroborated by the existence of a Tenm4 knockout mouse displaying an ET phenotype, implicates TENM4 in ET. Together with previous studies of TENM4 in model organisms, our studies intimate that processes regulating myelination in the central nervous system and axon guidance might be significant contributors to the genetic burden of this disorder.
Pubmed
Web of science
Open Access
Yes
Create date
17/11/2015 18:30
Last modification date
14/02/2022 8:54
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