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

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

Show Affiliations

1. Molecular Genetics Laboratory, Alzahra Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
2. Genetic Counseling Center, Isfahan, Iran
3. Dept. of Genetics, Special Medical Center, Tehran, Iran
4. Dept. of Pharmacy, Faculty of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia
5. Dept. of Genetics, National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran

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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