title: A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease.
abstract: 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.
authors.affiliation: Dept. of Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran.
authors.forename: Nayereh
authors.initials: N
authors.lastname: Nouri
authors.affiliation: Genetic Counseling Center, Isfahan, Iran.
authors.forename: Narges
authors.initials: N
authors.lastname: Nouri
authors.affiliation: Dept. of Genetics, Special Medical Center, Tehran, Iran.
authors.forename: Omid
authors.initials: O
authors.lastname: Aryani
authors.affiliation: Dept. of Pharmacy, Faculty of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia.
authors.forename: Behnam
authors.initials: B
authors.lastname: Kamalidehghan
authors.affiliation: Dept. of Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran.
authors.forename: Maryam
authors.initials: M
authors.lastname: Sedghi
authors.affiliation: Dept. of Genetics, National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran.
authors.forename: Massoud
authors.initials: M
authors.lastname: Houshmand
mesh_terms: D001072:Apraxias / Q000235:genetics*; D001260:Ataxia Telangiectasia / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000151:congenital; D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D034141:Hypoalbuminemia / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: C438188:APTX protein, human; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins