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Article

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.

European journal of human genetics : EJHG - 1 Jan 2017

Alodaib Ahmad, Sobreira Nara, Gold Wendy A, Riley Lisa G, Van Bergen Nicole J, Wilson Meredith J, Bennetts Bruce, Thorburn David R, Boehm Corinne, Christodoulou John

Abstract excerpt

Recent advances in next-generation sequencing strategies have led to the discovery of many novel disease genes. We describe here a non-consanguineous family with two affected boys presenting with early onset of severe axonal neuropathy, optic atrophy, intellectual disability, auditory neuropathy and chronic respiratory and gut disturbances. Whole-exome sequencing (WES) was performed on all family members and we...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27759031
DOI: 10.1038/ejhg.2016.128
PMCID: PMC5159763

Genes

PNPT1

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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