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

Unlabelled: 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.