Author/Authors :
Nouri, Nayereh isfahan university of medical sciences - alzahra hospital - molecular genetics laboratory, ايران , Nouri, Narges genetic counseling center, ايران , Aryani, Omid special medical center - Department of Genetics, ايران , Kamalidehghan, Behnam university of malaya - faculty of medicine - Department of Pharmacy, Malaysia , Sedghi, Maryam isfahan university of medical sciences - alzahra hospital - molecular genetics laboratory, ايران , Houshmand, Massoud national institute for genetic engineering and biotechnology (NIGEB) - Department of Genetics, ايران
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.
Keywords :
Aprataxin (APTX) , Ataxia , Iranian , Oculomotor apraxia (AOA)