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Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.

Human molecular genetics - 15 Apr 2015

Menezes Minal J, Guo Yiran, Zhang Jianguo, Riley Lisa G, Cooper Sandra T, Thorburn David R, Li Jiankang, Dong Daoyuan, Li Zhijun, Glessner Joseph, Davis Ryan L, Sue Carolyn M, Alexander Stephen I, Arbuckle Susan, Kirwan Paul, Keating Brendan J, Xu Xun, Hakonarson Hakon, Christodoulou John

Abstract excerpt

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...

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Share to Acidosis, Lactic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25556185
DOI: 10.1093/hmg/ddu747

Genes

MRPS7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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