The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

Recessive mutations in the RMND1 gene, encoding the Required for Meiotic Nuclear Division protein 1, can cause defects in mitochondrial translation and oxidative phosphorylation, resulting in multi-system mitochondrial disease. In this multi-centre international study, we identified 14 new cases from 11 pedigrees with recessive RMND1 mutations including six novel, pathogenic variants.  Hypotonia, developmental delay, congenital sensorineural deafness and lactic acidaemia are common clinical features with disease onset under two years. Progressive kidney disease manifesting with electrolyte imbalance, normocytic anaemia, dysplastic kidney and hypertension was evident in two-third of patients, and good clinical outcome was demonstrated in four recipients of kidney transplant. (By Dr. Yi Shiau Ng, http://jmg.bmj.com/content/early/2016/07/13/jmedgenet-2016-103910 )