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Article

COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Jul 2017

Park Eujin, Ahn Yo Han, Kang Hee Gyung, Yoo Kee Hwan, Won Nam Hee, Lee Kyoung Bun, Moon Kyung Chul, Seong Moon-Woo, Gwon Tae Rin, Park Sung Sup, Cheong Hae Il

Abstract excerpt

The phenotypic combination of steroid-resistant focal segmental glomerulosclerosis (SR-FSGS) and sensorineural hearing loss has been mainly reported in patients with mitochondrial cytopathies, including primary coenzyme Q10 (CoQ10) deficiency. In this report of 10 children with SR-FSGS and sensorineural hearing loss, we found 6 patients with biallelic COQ6 mutations. Median age at the onset of nephrotic syndrome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28117207
DOI: 10.1053/j.ajkd.2016.10.040

Genes

COQ6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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