Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis

Clin Nephrol. 2014 Feb;81(2):142-5. doi: 10.5414/CN107505.

Abstract

Few data regarding molecular diagnosis of primary distal renal tubular acidosis (DRTA) in Tunisian population are available.

Case report: 25-day-old male patient from consanguineous parents of Tunisian origin diagnosed with DRTA and without hearing impairment observed later in life. ATP6V0A4 gene sequencing demonstrated a novel homozygous G deletion in exon 13 (c.1221delG, p.Met408CysfsX10), leading to a premature stop codon.

Conclusion: A novel ATP6V0A4 gene mutation confirmed autosomal recessive DRTA with normal hearing in the patient. Molecular analysis may help to rapidly diagnose autosomal recessive DRTA in Tunisian population.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acidosis, Renal Tubular / enzymology
  • Acidosis, Renal Tubular / genetics*
  • Acidosis, Renal Tubular / physiopathology
  • Acidosis, Renal Tubular / therapy
  • Adult
  • Base Sequence
  • Codon, Nonsense*
  • DNA Mutational Analysis
  • Exons
  • Genetic Predisposition to Disease
  • Hearing
  • Homozygote
  • Humans
  • Male
  • Molecular Sequence Data
  • Phenotype
  • Tunisia
  • Vacuolar Proton-Translocating ATPases / genetics*

Substances

  • Codon, Nonsense
  • ATP6V0A4 protein, human
  • Vacuolar Proton-Translocating ATPases