A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease.

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.

• Authors: Nayereh Nouri, Narges Nouri, Omid Aryani, Behnam Kamalidehghan, Maryam Sedghi, Massoud Houshmand
• Journal: Iranian biomedical journal (Iran Biomed J) Vol. 16 Issue 4 Pg. 223-5 ( 2012) ISSN: 2008-823X [Electronic] Iran
• PMID: 23183622 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• APTX protein, human
• DNA-Binding Proteins
• Nuclear Proteins

Topics

• Apraxias (genetics)
• Ataxia Telangiectasia (genetics)
• Cerebellar Ataxia (congenital)
• Child
• DNA-Binding Proteins (genetics)
• Female
• Humans
• Hypoalbuminemia (genetics)
• Mutation
• Nuclear Proteins (genetics)
• Polymorphism, Single Nucleotide