A NOVEL MUTATION IN THE APRATAXIN (APTX) GENE IN AN IRANIAN INDIVIDUAL SUFFERING EARLY-ONSET ATAXIA WITH OCULOMOTOR APRAXIA TYPE 1(AOA1) DISEASE (SHORT REPORT)

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NOURI NAYEREH; NOURI NARGES; ARYANI OMID; KAMALIDEHGHAN BEHNAM; SEDGHI MARYAM; HOUSHMAND MASSOUD

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Journal: Iranian Biomedical Journal Year:2012 | Volume:16 | Issue:4 Page(s): 223-225

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Title

A NOVEL MUTATION IN THE APRATAXIN (APTX) GENE IN AN IRANIAN INDIVIDUAL SUFFERING EARLY-ONSET ATAXIA WITH OCULOMOTOR APRAXIA TYPE 1(AOA1) DISEASE (SHORT REPORT)

Author(s)

Keywords

ATAXIA OCULOMOTOR APRAXIA 1 (AOA1)

APRATAXIN (APTX)

IRANIAN

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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APA: Copy

NOURI, NAYEREH, NOURI, NARGES, ARYANI, OMID, KAMALIDEHGHAN, BEHNAM, SEDGHI, MARYAM, & HOUSHMAND, MASSOUD. (2012). A NOVEL MUTATION IN THE APRATAXIN (APTX) GENE IN AN IRANIAN INDIVIDUAL SUFFERING EARLY-ONSET ATAXIA WITH OCULOMOTOR APRAXIA TYPE 1(AOA1) DISEASE (SHORT REPORT). IRANIAN BIOMEDICAL JOURNAL, 16(4), 223-225. SID. https://sid.ir/paper/277419/en

Vancouver: Copy

NOURI NAYEREH, NOURI NARGES, ARYANI OMID, KAMALIDEHGHAN BEHNAM, SEDGHI MARYAM, HOUSHMAND MASSOUD. A NOVEL MUTATION IN THE APRATAXIN (APTX) GENE IN AN IRANIAN INDIVIDUAL SUFFERING EARLY-ONSET ATAXIA WITH OCULOMOTOR APRAXIA TYPE 1(AOA1) DISEASE (SHORT REPORT). IRANIAN BIOMEDICAL JOURNAL[Internet]. 2012;16(4):223-225. Available from: https://sid.ir/paper/277419/en

IEEE: Copy

NAYEREH NOURI, NARGES NOURI, OMID ARYANI, BEHNAM KAMALIDEHGHAN, MARYAM SEDGHI, and MASSOUD HOUSHMAND, “A NOVEL MUTATION IN THE APRATAXIN (APTX) GENE IN AN IRANIAN INDIVIDUAL SUFFERING EARLY-ONSET ATAXIA WITH OCULOMOTOR APRAXIA TYPE 1(AOA1) DISEASE (SHORT REPORT),” IRANIAN BIOMEDICAL JOURNAL, vol. 16, no. 4, pp. 223–225, 2012, [Online]. Available: https://sid.ir/paper/277419/en

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