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Iran Biomed J. 2012;16(4):223-5.

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

Author information

  • 1Dept. of Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran.

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.

PMID:
23183622
[PubMed - indexed for MEDLINE]
PMCID:
PMC3600965
Free PMC Article
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