Volume 16, Issue 4 (10-2012)                   ibj 2012, 16(4): 223-225 | Back to browse issues page

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Nouri N, Nouri N, Aryani O, Kamalidehghan B, Sedghi M, Houshmand M. A Novel Mutation in the Aprataxin (APTX) Gene in an Iranian Individual Suffering Early-Onset Ataxia with Oculomotor Apraxia Type 1(AOA1) Disease. ibj. 2012; 16 (4) :223-225
URL: http://ibj.pasteur.ac.ir/article-1-751-en.html

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.

Type of Study: Short Communication | Subject: Related Fields

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