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 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.