A Novel Mutation Pattern of Kidney Anion Exchanger 1 Gene in Patients With Distal Renal Tubular Acidosis in Iran

Authors

  • Nakysa Hooman Department of Pediatric Nephrology, Ali Asghar Children Hospital, Iran University of Medical Sciences, Tehran, Iran Author
  • Hassan Otukesh Department of Pediatric Nephrology, Ali Asghar Children Hospital, Iran University of Medical Sciences, Tehran, Iran Author
  • Hassan Fazilaty Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran; Instituto de Nuerociencias CSIC-UMH, San Juan de Alicante, Spain Author
  • Ibrahim Torktaz Department of Molecular Genetics, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran Author
  • Rozita Hosseini Department of Pediatric Nephrology, Ali Asghar Children Hospital, Iran University of Medical Sciences, Tehran, Iran Author
  • Babak Behnam Clinic of Medical Genetics, Ali Asghar Children Hospital, Iran University of Medical Sciences, Tehran, Iran Author

Abstract

Introduction. Mutations of the anion exchanger 1 (AE1) gene encoding the kidney anion exchanger 1 can result in autosomal dominant or autosomal recessive form of distal renal tubular acidosis (DRTA). This study aimed to report deletion mutations of the AE1 and its impact on Iranian children with DRTA.

Materials and Methods. Twelve children with DRTA referred to Ali Asghar Children Hospital were investigated for all AE1 gene exons through polymerase chain reaction amplification, DNA sequencing, and bioinformatics analysis.

Results. Eleven of 12 patients (91.7%) showed an alteration in AE1 gene with a real hot spot in its exons 11 or 15. Homozygote and heterozygote deletions were confirmed in exon 15 in 5 (41.7%) and 3 (25.0%), respectively. Two patients (16.7%) showed homozygote deletions in exon 11 of AE1 gene, and 1 patient (8.3%) showed point mutation in exon 11. The 3-dimensional structures of the native and these mutant kidney AE1 proteins were determined by the multitemplate method using the Phyre and Hidden Markov Model algorithms.

Conclusions. Parents' consanguinity of these patients reveals that cousins are at a high risk for DRTA. This study is considered as a pilot study showing the importance of AE1 mutations in Iranian children with DRTA and further studies is recommended in this geographic region of the world. These models suggest that alteration in the structures leads to alteration in function and change in the current role of AE1.

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Published

2015-04-29

Issue

Section

ORIGINAL | Kidney Diseases

How to Cite

A Novel Mutation Pattern of Kidney Anion Exchanger 1 Gene in Patients With Distal Renal Tubular Acidosis in Iran. (2015). Iranian Journal of Kidney Diseases, 9(3), 230-238. https://www.ijkd.org/index.php/ijkd/article/view/1816

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