title: Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis.
abstract: Few data regarding molecular diagnosis of primary distal renal tubular acidosis (DRTA) in Tunisian population are available.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.forename: Donia
authors.initials: D
authors.lastname: El Hayek
authors.forename: Hassan
authors.initials: H
authors.lastname: Bouzidi
authors.forename: Gustavo
authors.initials: G
authors.lastname: Pérez de Nanclares
authors.forename: Habib
authors.initials: H
authors.lastname: Soua
authors.forename: Jemni Ben
authors.initials: JB
authors.lastname: Chibani
authors.forename: Gema
authors.initials: G
authors.lastname: Ariceta
authors.forename: Luis
authors.initials: L
authors.lastname: Castaño
authors.forename: Amel Haj
authors.initials: AH
authors.lastname: Khelil
mesh_terms: D000141:Acidosis, Renal Tubular / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D000328:Adult; D001483:Base Sequence; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons; D020022:Genetic Predisposition to Disease; D006309:Hearing; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010641:Phenotype; D014416:Tunisia; D025262:Vacuolar Proton-Translocating ATPases / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C490181:ATP6V0A4 protein, human; D025262:Vacuolar Proton-Translocating ATPases