Article
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.
The Journal of clinical investigation - 1 Apr 2021
Mencacci Niccolò E, Brockmann Marisa M, Dai Jinye, Pajusalu Sander, Atasu Burcu, Campos Joaquin, Pino Gabriela, Gonzalez-Latapi Paulina, Patzke Christopher, Schwake Michael, Tucci Arianna, Pittman Alan, Simon-Sanchez Javier, Carvill Gemma L, Balint Bettina, Wiethoff Sarah, Warner Thomas T, Papandreou Apostolos, Soo Audrey, Rein Reet, Kadastik-Eerme Liis, Puusepp Sanna, Reinson Karit, Tomberg Tiiu, Hanagasi Hasmet, Gasser Thomas, Bhatia Kailash P, Kurian Manju A, Lohmann Ebba, Õunap Katrin, Rosenmund Christian, Südhof Thomas C, Wood Nicholas W, Krainc Dimitri, Acuna Claudio
Abstract excerpt
Dystonia is a debilitating hyperkinetic movement disorder, which can be transmitted as a monogenic trait. Here, we describe homozygous frameshift, nonsense, and missense variants in TSPOAP1, which encodes the active-zone RIM-binding protein 1 (RIMBP1), as a genetic cause of autosomal recessive dystonia in 7 subjects from 3 unrelated families. Subjects carrying loss-of-function variants presented with...
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