Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents.

Nidaa A AbabnehDema AliBan Al-KurdiMalik Sallam Abdulla M AlzibdehBareqa SalahAbdee T RyalatBelal AzabBasil SharrackAbdalla Awidi

Published in: PloS one (2020)

This is the first study to report the identification of a nonsense variant in the APTX gene (c.837G>A; p.W279*) in AOA1 patients within the Jordanian population. This study confirmed the need of WES to assist in the diagnosis of cerebellar ataxia and it emphasizes the importance of studying the pathophysiology of the APTX gene.

Keyphrases

end stage renal disease
copy number
genome wide
newly diagnosed
chronic kidney disease
early onset
prognostic factors
gene expression
peritoneal dialysis
genome wide identification