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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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.
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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
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 decr...
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Journal title:
iranian biomedical journalجلد ۱۶، شماره ۴، صفحات ۲۲۳-۲۲۵
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