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Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite diagnoses, two possible diagnoses and eight secondary findings. Surprisingly, common pathogenic mtDNA variants found in people of European ancestry were very rare. Whole‐exome or ‐genome sequencing from undiagnosed patients with neuromuscular symptoms should be re‐analysed for mtDNA variants, but the landscape of pathogenic mtDNA variants differs around the world.

IntroductionVitamin D has numerous important functions in the human body. There is limited data available regarding vitamin D status in children with Chronic Kidney Disease (CKD) in South Africa.ObjectivesTo determine the vitamin D status, as well as factors that affect it, in children with CKD in Johannesburg, South Africa.MethodsA cross-sectional observational study was performed on 69 patients who attended the Renal Outpatient Clinic, and required routine phlebotomy, at Charlotte Maxeke Johannesburg Academic Hospital, Division of Paediatric Nephrology, between 20/08/2013 and 20/05/2014.Results71% (n=49) of patients in our study sample were vitamin D sufficient. Significant factors that influenced vitamin D status included albumin levels and the presence of Nephrotic syndrome with relapse.There was a statistically significant positive correlation between albumin and vitamin D (p=0.00). As albumin levels increased so did the vitamin D levels. Patients with Nephrotic Syndrome with relapse had significantly lower vitamin D levels compared to patients with Nephrotic Syndrome in remission (p=0.00).ConclusionThe majority of children with Chronic Kidney Disease in Johannesburg, South Africa, are vitamin D sufficient. This is reassuring as it implies that there is no need for routine vitamin D supplementation in this sample of children. However patients, especially those with nephrotic syndrome with relapse, still need to be screened for vitamin D deficiency and insufficiency and supplemented if necessary.