CONCLUSION:
Herein, we report a first missense mutation inherited in familial pedigree using Whole Exome Sequencing (WES). Mutations in SGCEgene represent the major genetic cause, but other genes and loci are associated with the disease and in a proportion of patients no genetic alteration is found. Because of the phenotypic variability of dystonia with the declining costs of next-generation sequencing (NGS), multi-gene panels, WES and WGS are very useful for genetic diagnoses for patient with M-D, thus prenatal testing and preimplantation genetic diagnosis are possible for families in which the pathogenic variant is known.
Conflict of interest: Authors declare no conflicts of interest
Funding sources: This work has been founded by the UM6SS organization