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