Burcu Atasu1,2, Hasmet Hanagasi3, Basar Bilgic3, Meltem Pak3, Nihan Erginel-Unaltuna4, Ann-Kathrin Hauser1,2, Gamze Guven4, Javier Simón-Sánchez1,2, Peter Heutink1,2, Thomas Gasser1,2, Ebba Lohmann1,2,3. 1. German Center for Neurodegenerative Diseases (DZNE)-Tübingen, Tübingen, Germany. 2. Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. 3. Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey. 4. Aziz Sancar Institute for Experimental Medicine, Genetics Department, Istanbul University, Istanbul, Turkey.
Abstract
BACKGROUND: HPCA (hippocalcin) is one of the underlying genetic causes of autosomal-recessively inherited forms of dystonia. Here, we describe two consanguineous Turkish DYT-HPCA families carrying the novel HPCA mutations. METHODS: After detailed clinical and neurological examination, whole-exome sequencing was performed. RESULTS: Whole-exome sequencing analysis revealed two homozygous novel truncating mutations (p.W103* and p.P10PfsTer80) in the HPCA gene in two unrelated Turkish dystonia families presenting with complex dystonia. CONCLUSIONS: After identification of HPCA as a genetic cause of DYT-HPCA-like dystonia by Charlesworth et al, this is the second report in the scientific literature that describes dystonia families harboring HPCA mutations. Our findings confirm that HPCA leads to recessively inherited dystonia.
BACKGROUND:HPCA (hippocalcin) is one of the underlying genetic causes of autosomal-recessively inherited forms of dystonia. Here, we describe two consanguineous Turkish DYT-HPCA families carrying the novel HPCA mutations. METHODS: After detailed clinical and neurological examination, whole-exome sequencing was performed. RESULTS: Whole-exome sequencing analysis revealed two homozygous novel truncating mutations (p.W103* and p.P10PfsTer80) in the HPCA gene in two unrelated Turkish dystonia families presenting with complex dystonia. CONCLUSIONS: After identification of HPCA as a genetic cause of DYT-HPCA-like dystonia by Charlesworth et al, this is the second report in the scientific literature that describes dystonia families harboring HPCA mutations. Our findings confirm that HPCA leads to recessively inherited dystonia.
Authors: Robert D Burgoyne; Nordine Helassa; Hannah V McCue; Lee P Haynes Journal: Cold Spring Harb Perspect Biol Date: 2019-05-01 Impact factor: 10.005
Authors: Niccolò E Mencacci; Marisa M Brockmann; Jinye Dai; Sander Pajusalu; Burcu Atasu; Joaquin Campos; Gabriela Pino; Paulina Gonzalez-Latapi; Christopher Patzke; Michael Schwake; Arianna Tucci; Alan Pittman; Javier Simon-Sanchez; Gemma L Carvill; Bettina Balint; Sarah Wiethoff; Thomas T Warner; Apostolos Papandreou; Audrey Soo; Reet Rein; Liis Kadastik-Eerme; Sanna Puusepp; Karit Reinson; Tiiu Tomberg; Hasmet Hanagasi; Thomas Gasser; Kailash P Bhatia; Manju A Kurian; Ebba Lohmann; Katrin Õunap; Christian Rosenmund; Thomas C Südhof; Nicholas W Wood; Dimitri Krainc; Claudio Acuna Journal: J Clin Invest Date: 2021-04-01 Impact factor: 14.808