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Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report

Overview of attention for article published in BMC Research Notes, June 2016
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Title
Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report
Published in
BMC Research Notes, June 2016
DOI 10.1186/s13104-016-2131-2
Pubmed ID
Authors

Asheeta Gupta, Isabel Colmenero, Nicola K. Ragge, Emma L. Blakely, Langping He, Robert McFarland, Robert W. Taylor, Julie Vogt, David V. Milford

Abstract

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. 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. 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.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 15 100%

Demographic breakdown

Readers by professional status Count As %
Unspecified 4 27%
Other 3 20%
Researcher 3 20%
Student > Master 2 13%
Student > Postgraduate 1 7%
Other 2 13%
Readers by discipline Count As %
Unspecified 5 33%
Medicine and Dentistry 5 33%
Biochemistry, Genetics and Molecular Biology 2 13%
Computer Science 1 7%
Decision Sciences 1 7%
Other 1 7%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 29 June 2016.
All research outputs
#6,893,075
of 7,965,219 outputs
Outputs from BMC Research Notes
#1,622
of 1,955 outputs
Outputs of similar age
#219,165
of 261,240 outputs
Outputs of similar age from BMC Research Notes
#68
of 80 outputs
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