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Case Reports
. 2012;16(4):223-5.
doi: 10.6091/ibj.1077.2012.

A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease

Nayereh Nouri  1 , Narges Nouri  2 , Omid Aryani  3 , Behnam Kamalidehghan  4 , Maryam Sedghi  1 , Massoud Houshmand  5
Affiliations
Case Reports

A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease

Nayereh Nouri et al. Iran Biomed J. 2012.

Abstract

Background: Ataxia with oculomotor apraxia type 1 (AOA1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (APTX) gene encoding for the APTX protein.

Methods: In this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and AOA, with increased cholesterol concentration and decreased albumin concentration in serum. PCR and direct DNA sequencing was performed after DNA extraction.

Results: Sequencing analysis revealed a novel homozygous deletion in c.643 and A>T single nucleotide polymorphism in c.641 in exon 6 of the APTX gene [ENST00000379825].

Conclusion: It seems that this region of exon 6 is probably a hot spot; however, no deletions have been reported in exon 6 yet.

Keywords: Ataxia oculomotor apraxia 1; aprataxin; Iranian.

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Figures

Fig. 1
Fig. 1
Comparison of a single nucleotide change in exon 6 of APTX gene at location c.641 A> T [214 (Y>F 214)] and a single nucleotide deletion located at c.643delC [AA227> STOP] [ENST00000379825] in the patient with normal sequence of cDNA and protein.
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