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Objectives:  To report two novel  DNA2  gene mutations causing early onset myopathy with cardiac involvement and late onset mitochondriopathy with rhabdomyolysis.   Methods:  We performed detailed clinical, muscle histopathology and molecular studies including mitochondrial gene NGS analysis in two patients (Patient 1 and 2), a mother and her son, belonging to a Mexican family, and a third sporadic French patient.   Results:  Patient 1 and 2 presented with an early onset myopathy associated with ptosis, velopharyngeal weakness, and cardiac involvement. Patient 3 presented rhabdomyolysis unmasking a mitochondrial disease characterized by a sensorineural hearing loss, ptosis, and lipomas. Muscle biopsies performed in all patients showed variable mitochondrial alterations. Patient 3 had multiple mtDNA deletion in his muscle. Genetic studies revealed a novel heterozygous frameshift mutation in  DNA2  gene (c.2346delT p.Phe782Leufs * 3) in P1 and P2, and a novel heterozygous missense mutation in  DNA2  gene (c.578T>C p.Leu193Ser) in the P3.   Conclusions:  To date only few AD cases presenting either missense or truncating  DNA2  variants have been reported. None of them presented with a cardiac involvement or rhabdomyolysis. Here we enlarge the genetic and phenotypic spectrum of  DNA2 -related mitochondrial disorders.

Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants