A Novel Mutation in the Aprataxin (Aptx) Gene in an Iranian Individual Suffering Early-Onset Ataxia With Oculomotor Apraxia Type 1(Aoa1) Disease

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A Novel Mutation in the Aprataxin (Aptx) Gene in an Iranian Individual Suffering Early-Onset Ataxia With Oculomotor Apraxia Type 1(Aoa1) Disease Publisher Pubmed

Nouri N¹ ; Nouri N¹ ; Aryani O³ ; Kamalidehghan B⁴ ; Sedghi M¹ ; Houshmand M⁵

Source: Iranian Biomedical Journal Published: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.

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Style	Citing Format
MLA	Nouri N, et al.. "A Novel Mutation in the Aprataxin (Aptx) Gene in an Iranian Individual Suffering Early-Onset Ataxia With Oculomotor Apraxia Type 1(Aoa1) Disease." Iranian Biomedical Journal, vol. 16, no. 4, 2012, pp. -.
APA	Nouri N, Nouri N, Aryani O, Kamalidehghan B, Sedghi M, Houshmand M (2012). A Novel Mutation in the Aprataxin (Aptx) Gene in an Iranian Individual Suffering Early-Onset Ataxia With Oculomotor Apraxia Type 1(Aoa1) Disease. Iranian Biomedical Journal, 16(4), -.
Chicago	Nouri N, Nouri N, Aryani O, Kamalidehghan B, Sedghi M, Houshmand M. "A Novel Mutation in the Aprataxin (Aptx) Gene in an Iranian Individual Suffering Early-Onset Ataxia With Oculomotor Apraxia Type 1(Aoa1) Disease." Iranian Biomedical Journal 16, no. 4 (2012): -.
Harvard	Nouri N et al. (2012) 'A Novel Mutation in the Aprataxin (Aptx) Gene in an Iranian Individual Suffering Early-Onset Ataxia With Oculomotor Apraxia Type 1(Aoa1) Disease', Iranian Biomedical Journal, 16(4), pp. -.
Vancouver	Nouri N, Nouri N, Aryani O, Kamalidehghan B, Sedghi M, Houshmand M. A Novel Mutation in the Aprataxin (Aptx) Gene in an Iranian Individual Suffering Early-Onset Ataxia With Oculomotor Apraxia Type 1(Aoa1) Disease. Iranian Biomedical Journal. 2012;16(4):-.
BibTex	@article{ author = {Nouri N and Nouri N and Aryani O and Kamalidehghan B and Sedghi M and Houshmand M}, title = {A Novel Mutation in the Aprataxin (Aptx) Gene in an Iranian Individual Suffering Early-Onset Ataxia With Oculomotor Apraxia Type 1(Aoa1) Disease}, journal = {Iranian Biomedical Journal}, volume = {16}, number = {4}, pages = {-}, year = {2012} }
RIS	TY - JOUR AU - Nouri N AU - Nouri N AU - Aryani O AU - Kamalidehghan B AU - Sedghi M AU - Houshmand M TI - A Novel Mutation in the Aprataxin (Aptx) Gene in an Iranian Individual Suffering Early-Onset Ataxia With Oculomotor Apraxia Type 1(Aoa1) Disease JO - Iranian Biomedical Journal VL - 16 IS - 4 SP - EP - PY - 2012 ER -

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