Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ilam University of Medical Sciences

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

Tue Dec 6 01:41:02 2022

(2017) Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia. Cold Spring Harbor Molecular Case Studies. p. 9. ISSN 2373-2873

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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).

Item Type: Article
Creators:
CreatorsEmail
Inlora, J.UNSPECIFIED
Sailani, M. R.UNSPECIFIED
Khodadadi, H.UNSPECIFIED
Teymurinezhad, A.UNSPECIFIED
Takahashi, S.UNSPECIFIED
Bernstein, J. A.UNSPECIFIED
Garshasbi, M.UNSPECIFIED
Snyder, M. P.UNSPECIFIED
Keywords: early-onset ataxia ocular motor apraxia aprataxin hypoalbuminemia portuguese type-1 Research & Experimental Medicine
Divisions:
Page Range: p. 9
Journal or Publication Title: Cold Spring Harbor Molecular Case Studies
Journal Index: ISI
Volume: 3
Number: 6
Identification Number: https://doi.org/10.1101/mcs.a002014
ISSN: 2373-2873
Depositing User: مهندس مهدی شریفی
URI: http://eprints.medilam.ac.ir/id/eprint/217

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