| HRA000939
(Open Access)
|
we report a case series of three patients withCombined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by GTPBP3 mutations from severe to mild phenotype. Whole genome sequencing and targeted panels of candidate human mitochondrial genome revealed that the Patient #1 was a compound heterozygote with novel mutations c.413C>T (p. A138V) and c.509_510del (p. E170Gfs*42) in GTPBP3. Patient #2 was a compound heterozygote with novel mutations c.544G>T (p. G182X) and c.785A>C (p.Q262P), while Patient #3 was a compound heterozygote with a previously reported mutation c.424G>A (p.E142K) and novel mutation c.785A>C (p.Q262P). In conclusion, we firstly describe three Chinese individuals with COXPD23, and discuss the genotype-phenotype correlations of GTPBP3 mutations. Our findings provide novel information in the diagnosis and genetic counselling of patients with mitochondrial disease. |
