A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia

Anoctamin 3 (ANO3) mutations have first been reported in families with autosomal dominant cervical, laryngeal and/or upper-limb tremulous dystonia in 2012 [1]. Since then a number of studies have described rare ANO3 variants in dystonia patients often with inconclusive segregation in available family members [2,3]. Notably, rare ANO3 missense variants could also be detected in 0.3 –0.5% of presumably healthy individuals [4]. Thus, the pathogeneity of ANO3 variants in dystonia is still under debate [5].

Source: Journal of the Neurological Sciences - November 21, 2018 Category: Neurology Authors: Sinem Tunc, Jonas Denecke, Luisa Olschewski, Tobias B äumer, Alexander Münchau, Davor Lessel, Katja Lohmann Tags: Letter to the Editor Source Type: research