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Article

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.

Journal of human genetics - 1 May 2018

Catania Alessia, Ardissone Anna, Verrigni Daniela, Legati Andrea, Reyes Aurelio, Lamantea Eleonora, Diodato Daria, Tonduti Davide, Imperatore Valentina, Pinto Anna Maria, Moroni Isabella, Bertini Enrico, Robinson Alan, Carrozzo Rosalba, Zeviani Massimo, Ghezzi Daniele

Abstract excerpt

Biallelic mutations in NDUFAF6 have been identified as responsible for cases of autosomal recessive Leigh syndrome associated with mitochondrial complex I deficiency. Here we report two siblings and two unrelated subjects with Leigh syndrome, in which we found the same compound heterozygous missense (c.532G>C:p.A178P) and deep intronic (c.420+784C>T) variants in NDUFAF6. We demonstrated that the identified...

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Identifiers

PMID: 29531337
DOI: 10.1038/s10038-018-0423-1
PMCID: PMC6071912

Genes

NDUFAF6

Variants

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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