Isfahan University of Medical Sciences

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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
Authors

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.