Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp

Abstract

HDR is a rare autosomal dominant genetic disorder characterized by the triad of hypoparathyroidism, sensorineural deafness and renal anomalies caused by haploinsufficiency loss of function of the GATA-binding protein 3 (GATA3) gene. We present a case of a 56-year-old male diagnosed with hypoparathyroidism, sensorineural deafness, renal hypoplasia and epilepsy. Genetic testing revealed a novel GATA3 heterozygous mutation c.860C>A with a predicted amino acid substitution p.Ala287Asp. This hitherto unreported missense GATA mutation was characterized by a relatively late-onset and milder phenotype of the HDR triad.

Keywords

• familial hypoparathyroidism
• barakat syndrome
• hdr syndrome
• gata3 mutation
• sensorineural deafness
• zinc finger transcription factor
• zf1