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Lookup NU author(s): Dr Langping He, Professor Bobby McFarlandORCiD, Professor Robert Taylor
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2016 The Author(s). Background: Nuclear gene mutations are being increasingly recognised as causes of mitochondrial disease. The nuclear gene RMND1 has recently been implicated in mitochondrial disease, but the spectrum of pathogenic variants and associated phenotype for this gene, has not been fully elucidated. Case presentation: An 11-month-old boy presented with renal impairment associated with a truncal ataxia, bilateral sensorineural hearing loss, hypotonia, delayed visual maturation and global developmental delay. Over a 9-year period, he progressed to chronic kidney disease stage V and developed a dilated cardiomyopathy. Abnormalities in renal and muscle biopsy as well as cytochrome c oxidase activity prompted genetic testing. After exclusion of mitochondrial DNA defects, nuclear genetic studies identified compound heterozygous RMND1 (c.713A>G, p. Asn238Ser and c.565C>T, p.Gln189∗) variants. Conclusion: We report RMND1 gene variants associated with end stage renal failure, dilated cardiomyopathy, deafness and neurological involvement due to mitochondrial disease. This case expands current knowledge of mitochondrial disease secondary to mutation of the RMND1 gene by further delineating renal manifestations including histopathology. To our knowledge dilated cardiomyopathy has not been reported with renal failure in mitochondrial disease due to mutations of RMND1. The presence of this complication was important in this case as it precluded renal transplantation.
Author(s): Gupta A, Colmenero I, Ragge NK, Blakely EL, He L, McFarland R, Taylor RW, Vogt J, Milford DV
Publication type: Article
Publication status: Published
Journal: BMC Research Notes
Year: 2016
Volume: 9
Issue: 1
Online publication date: 27/06/2016
Acceptance date: 18/06/2016
Date deposited: 18/04/2017
ISSN (electronic): 1756-0500
Publisher: BioMed Central Ltd.
URL: https://doi.org/10.1186/s13104-016-2131-2
DOI: 10.1186/s13104-016-2131-2
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