Scientific Publication 

Role of ANO3 mutations in dystonia: A large-scale mutational screening study

Author(s): Rolfs, Prof. Arndt, MD, Klein, Prof. Christine, MD, Lohmann, Katja, PhD, Brüggemann, Norbert, MD, Bauer, Dr. Peter, MD, Ferbert, Prof. Andreas, MD, Berg, Prof. Daniela, MD, Bäumer, Tobias, MD, Olschewski, Luisa, Jesús, Silvia, Kim, Han-Joon, Tunc, Sinem, Löns, Sebastian, Junker, Johanna, Zeuner, Kirsten, Kühn, Andrea A, Kuhlenbäumer, Gregor, Schaeffer, Eva, Kasten, Meike, Altenmüller, Eckart, Jeon, Beomseok, Mir, Pablo

Newly suggested gene-disease associations need confirmatory follow-up by large-scale epidemiological studies; CENTOGENE actively engages in pertinent research projects. A recent example addressed the hypothetical link between ANO3 and movement disorders. Screening of >1,000 patients revealed strong support of a pathogenic role for heterozygous ANO3 missense variants in Parkinson’s disease and dystonia. The findings were published ahead of print in Parkinsonism & Related Disorders ahead of print on January 2nd.

Newly suggested gene-disease associations need confirmatory follow-up by large-scale epidemiological studies; CENTOGENE actively engages in pertinent research projects. A recent example addressed the hypothetical link between ANO3 and movement disorders. Screening of >1,000 patients revealed strong support of a pathogenic role for heterozygous ANO3 missense variants in Parkinson’s disease and dystonia. The findings were published ahead of print in Parkinsonism & Related Disorders ahead of print on January 2nd.


Read publication