Journal article
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease
A Alodaib, N Sobreira, WA Gold, LG Riley, NJ Van Bergen, MJ Wilson, B Bennetts, DR Thorburn, C Boehm, J Christodoulou
European Journal of Human Genetics | SPRINGERNATURE | Published : 2016
Abstract
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 identified compound heterozygous variants (c.[760C>A];[1528G>C];p.[(Gln254Lys);(Ala510Pro)] in the polyribonucleotide nucleotidyltransferase 1 (PNPT1) gene in both affected individuals. PNPT1 encodes the polynucleotide phosphorylase (PNPase) protein, which is involved in the transport..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
This work was supported by a scholarship to A Alodaib provided by the Academic and Training Affairs at King Faisal Specialist Hospital and Research Center and the Ministry of Higher Education (Riyadh, Saudi Arabia). This research was supported by Australian NHMRC Grant 1026891 (to JC), an NHMRC Principal Research Fellowship (to DRT) and an NHGRI Grant 1U54HG006542. Finally, we also gratefully acknowledge donations to JC by the Crane and Perkins families.