en یک موتاسیون جدید در ژن (APTX) Apratoxinدر یک بیمار ایرانی مبتلا به بیماری آتاکسی زودرس چشمی همراه با آپراکسی نوع 1 (AOA1) Related Fields Related Fields مقاله کوتاه Short Communication <p>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.</p> Ataxia oculomotor apraxia 1 (AOA1), aprataxin (APTX), Iranian 223 225 http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-368&slc_lang=en&sid=1 Nayereh Nouri نیره نوری No Narges Nouri نرگس نوری No Omid Aryani امید آریانی No Behnam Kamalidehghan بهنام کمالی دهقان No Maryam Sedghi مریم صدقی No Massoud Houshmand مسعود هوشمند massoudh@nigeb.ac.ir Yes