RESUMEN
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. 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. 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]. It seems that this region of exon 6 is probably a hot spot; however, no deletions have been reported in exon 6 yet