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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| Authors: | Nayereh Nouri Narges Nouri Omid Aryani Behnam Kamalidehghan Maryam Sedghi Massoud Houshmand |
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| Affiliation: | 1.Molecular Genetics Laboratory, Alzahra Hospital, Isfahan University of Medical Sciences, Isfahan; ;2.Genetic Counseling Center, Isfahan; ;3.Dept. of Genetics, Special Medical Center, Tehran;;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 |
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| Abstract: | BackgroundAtaxia 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. MethodsIn 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].ConclusionIt seems that this region of exon 6 is probably a hot spot; however, no deletions have been reported in exon 6 yet. Key Words: Ataxia oculomotor apraxia 1 (AOA1), aprataxin (APTX), Iranian |
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