Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a002014. doi: 10.1101/mcs.a002014. Print 2017 Nov.

Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.

Inlora J¹, Sailani MR¹, Khodadadi H², Teymurinezhad A³, Takahashi S¹, Bernstein JA⁴, Garshasbi M^5,⁶, Snyder MP¹.

Author information

1: Department of Genetics, Stanford University, Stanford, California 94305, USA.
2: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran 19839-63113, Iran.
3: Department of Medical Genetics, School of Medicine, Ilam University of Medical Sciences, Ilam, Iran.
4: Department of Pediatrics, Stanford University, Stanford, California 94305, USA.
5: Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
6: Department of Medical Genetics, DeNA Laboratory, Tehran, Iran.

Abstract

Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the inability to control gait and muscle coordination. Given the nonspecific 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 the APTX gene (c.739A>T; p.Lys247*) that segregates with the phenotype. Mutations in the APTX (OMIM 606350) gene are associated with ataxia with oculomotor apraxia type 1 (OMIM 208920).