Journal article
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia
MJ Menezes, Y Guo, J Zhang, LG Riley, ST Cooper, DR Thorburn, J Li, D Dong, Z Li, J Glessner, RL Davis, CM Sue, SI Alexander, S Arbuckle, P Kirwan, BJ Keating, X Xu, H Hakonarson, J Christodoulou
Human Molecular Genetics | Published : 2015
DOI: 10.1093/hmg/ddu747
Abstract
Functional defects of the mitochondrial translation machinery, as a result of mutations in nuclear-encoded genes, have been associated with combined oxidative phosphorylation (OXPHOS) deficiencies. We report siblings with congenital sensorineural deafness and lactic acidemia in association with combined respiratory chain (RC) deficiencies of complexes I, III and IV observed in fibroblasts and liver. One of the siblings had a more severe phenotype showing progressive hepatic and renal failure. Wholeexome sequencing revealed a homozygous mutation in the gene encoding mitochondrial ribosomal protein S7 (MRPS7), a c.550A>G transition that encodes a substitution of valine for a highly conserved m..
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Awarded by United Mitochondrial Disease Foundation
Funding Acknowledgements
This research was supported by Australian NHMRC grant 1026891 to J.C., an NHMRC Research Fellowship to S.T.C., an NHMRC Principal Research Fellowship to D.R.T., an NHMRC early career fellowship for R.L.D., an NHMRC practitioner fellowship for C.M.S., an Australian Mitochondrial Disease Foundation (AMDF) PhD Scholarship to M.J.M. and a Research Grant from the Shenzhen Municipal Government of China (no. CXZZ20130517144604091) to X.X.