DOI: 10.36347/sjams.2019.v07i10.049

Pages: 3459-3464

The appearance of next-generation sequencing (NGS) has significantly changed the way we think about scientific approaches in basic research and clinical application. Adult- and adolescent-onset muscular dystrophies (MDs) are a disorders that cause muscle disease (myopathy) characterized by progressive muscle weakness and muscle fibers degeneration (atrophy) which caused by alteration in one or more of genes needed for standard muscle function [5]. Most MDs are congenital disorders, but impulsive alteration can arise. Facioscapulohumeral is a genetic condition caused by abnormal expression of the DUX4 gene, People with FSHD2 have a mutation in the SMCHD1 gene. This study presents a new causative novel gene with pathogenic mutation discovered as a de novo mutation, then transferred by Autosomal dominant inheritance to the next generation of first cases. We have identified a heterozygous missense variant of RPTOR (RPTOR:NM_001163034:exon9:c.1093G>A:p.V365I) in this family. After searching we found this mutation to be significant and it is in a gene first time to be reported causing such symptoms and signs of the disease.