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Identification of a novel mutation in APTX gene associated with Ataxia-oculomotor apraxia. Cold Spring Harbor molecular case studies Inlora, J., Sailani, M. R., Khodadadi, H., Teymurinezhad, A., Takahashi, S., Bernstein, J. A., Garshasbi, M., Snyder, M. P. 2017

Abstract

Hereditary ataxias are clinically and genetically heterogeneous family of disorders defined by the inability to control gait and muscle coordination. Given the non-specific symptoms of many hereditary ataxias, precise diagnosis relies on molecular genetic testing. To this end, we conducted whole exome sequencing (WES) on a large consanguineous Iranian family with hereditary ataxia and oculomotor apraxia. WES in five affected and six unaffected individuals resulted in the identification of a homozygous novel stop-gain mutation in APTX gene (c. 739T>A; p.Lys247Ter) that segregates with the phenotype. Mutations in APTX gene are associated with ataxia with oculomotor apraxia type 1 (AOA1).

View details for PubMedID 28652255