Mutation Case Report and Literature Review.

INTRODUCTION

Mutations in the RMND1 gene that cause defects in the mitochondrial respiratory chain result in a highly variable phenotypic presentation. The protein required for meiotic nuclear division 1 homolog (RMND1) is localized to the inner mitochondrial membrane and is encoded by the nuclear genome.

CASE PRESENTATION

We report a new patient from a consanguineous family who was severely affected by a previously described combined oxidative phosphorylation deficiency 11 and was treated rapidly due to early diagnosis.

METHODS

We also included patients with RMND1 mutation in the literature. We analyzed the epidemiological, clinical, laboratory, and genetic data of a total of 49 patients (98 alleles) in the literature, including our patient. We summarized all previously published patients and focused on the importance of early diagnosis.

RESULTS

The most common variant in patients with RMND1 mutation was c.713A>G (p.Asn238Ser). Mortality was significantly lower in patients with homozygous and compound heterozygous c.713A>G (p.Asn238Ser) mutations ( < 0.001). The second most common mutation was c1349G>C (p.450Serext31), which was reported in 11 patients (22.4%). Cardiac involvement and mortality were more common in patients with homozygous c.1349G>C (p.450Serext32) mutation ( = 0.008 and 0.008, respectively).

CONCLUSION

In this study, the effect of cardiac involvement on mortality in RMND1 mutation was shown for the first time. We reported that mortality was lower in the c.713A>G (p.Asn238Ser) mutation. Furthermore, mortality was more common in the c.1349G>C (p.450Serext32) mutation. These findings have not been previously reported in the literature. They are reported for the first time in this study.