Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

doi:10.1093/hmg/ddw245

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Article

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

Human molecular genetics - 15 Sept 2016

Hartmannová Hana, Piherová Lenka, Tauchmannová Kateřina, Kidd Kendrah, Acott Philip D, Crocker John F S, Oussedik Youcef, Mallet Marcel, Hodaňová Kateřina, Stránecký Viktor, Přistoupilová Anna, Barešová Veronika, Jedličková Ivana, Živná Martina, Sovová Jana, Hůlková Helena, Robins Vicki, Vrbacký Marek, Pecina Petr, Kaplanová Vilma, Houštěk Josef, Mráček Tomáš, Thibeault Yves, Bleyer Anthony J, Kmoch Stanislav

Abstract excerpt

The Acadian variant of Fanconi Syndrome refers to a specific condition characterized by generalized proximal tubular dysfunction from birth, slowly progressive chronic kidney disease and pulmonary interstitial fibrosis. This condition occurs only in Acadians, a founder population in Nova Scotia, Canada. The genetic and molecular basis of this disease is unknown. We carried out whole exome and genome sequencing...

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PMID: 27466185
DOI: 10.1093/hmg/ddw245

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NDUFAF6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.PMID 27466185Read ↗

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