Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report.
BMC Res Notes
; 9: 325, 2016 Jun 27.
Article
em En
| MEDLINE
| ID: mdl-27350610
ABSTRACT
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.Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Cardiomiopatia Dilatada
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Proteínas de Ciclo Celular
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Doenças Mitocondriais
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Insuficiência Renal Crônica
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Mutação
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Doenças do Sistema Nervoso
Tipo de estudo:
Prognostic_studies
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Risk_factors_studies
Limite:
Humans
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Infant
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Male
Idioma:
En
Revista:
BMC Res Notes
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Reino Unido