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Article

Some pathogenic SETX variants are partially conserved during evolution.

Gene - 1 Mar 2021

Tariq Huma, Tariq Iqra, Bourinaris Thomas, Houlden Henry, Naz Sadaf

Abstract excerpt

Variants in SETX have been implicated in recessively and dominantly inherited disorders, ataxia with oculomotor apraxia type 2 (AOA2 OMIM# 606002) and amyotrophic lateral sclerosis (ALS4, OMIM# 602433) respectively, in humans. We report two novel bi-allelic pathogenic variants in SETX in patients suffering from ataxia with oculomotor apraxia type 2, extending the allelic spectrum of the gene variants. We also...

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Identifiers

PMID: 33333218
DOI: 10.1016/j.gene.2020.145360

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