Genotype

Mutation

Gene

Biology

Phenotype

Dystonia

Genetics

Medicine

Psychiatry

Movement Disorders

This comprehensive MDSGene review is devoted to 7 genes — TOR1A , THAP1 , GNAL , ANO3 , PRKRA , KMT2B , and HPCA — mutations in which may cause isolated dystonia. It followed MDSGene's standardized data extraction protocol and screened a total of ~1200 citations. Phenotypic and genotypic data on ~1200 patients with 254 different mutations were curated and analyzed. There were differences regarding age at onset, site of onset, and distribution of symptoms across mutation carriers in all 7 genes. Although carriers of TOR1A , THAP1 , PRKRA , KMT2B , or HPCA mutations mostly showed childhood and adolescent onset, patients with GNAL and ANO3 mutations often developed first symptoms in adulthood. GNAL and KMT2B mutation carriers frequently have 1 predominant site of onset, that is, the neck ( GNAL ) or the lower limbs ( KMT2B ), whereas site of onset in DYT‐ TOR1A , DYT‐ THAP1 , DYT‐ ANO3 , DYT‐ PRKRA , and DYT‐ HPCA was broader. However, in most DYT‐ THAP1 and DYT‐ ANO3 patients, dystonia first manifested in the u...

Genotype–Phenotype Relations for Isolated Dystonia Genes: <scp>MDSGene</scp> Systematic Review

Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review