J Clin Neurol.  2017 Jul;13(3):303-305. 10.3988/jcn.2017.13.3.303.

A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1

• Manzoor H
• Bukhari I
• Wajid M
• Zhang Y
• Zhang H
• Brüggemann N
• Klein C
• Shi Q
• Naz S

• KMID: 2391678
• DOI: http://doi.org/10.3988/jcn.2017.13.3.303

Abstract

No abstract available.

MeSH Terms

Apraxias*
Ataxia*

Figure

• 

  Fig. 1 The RDHM-02 family and nonsense APTX variant segregated based on the phenotype. A: RDHM-02 pedigree. *Individuals for whom DNA was available. The arrows denote individuals for whom whole-exome sequencing was performed. The genotypes of APTX (c.388C>T) are indicated below the corresponding symbols for individual subjects. B: Electropherogram of APTX sequence analyses. The site of the mutation is indicated by an arrow. C: Diagram of APTX (NM_175073.2), with black boxes denoting translated exons and plain boxes denoting 5′ and 3′ untranslated regions. Introns are depicted by horizontal lines. D: Aprataxin. The protein domains are shaded. All reported nonsense mutations are shown, and the p. Gln130Ter variant identified in family RDHM-02 is boxed. FHA: forkhead-associated domain at the N-terminal, HIT: histidine triad domain, Znf: zinc finger domain at the C-terminal.

Reference

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