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

GATA3 gene mutations located on chromosome 10p cause haploinsufficiency of the GATA3 protein affecting fetal development of the parathyroid glands, inner ear and renal anomalies, resulting in HDR syndrome with an autosomal dominant inheritance pattern.Also known as Barakat syndrome, it has been reported in less than 200 cases with an identified mutation, each having a varied phenotypic presentation without consistent genotypic correlation.We present a patient with HDR syndrome who tested positive for a novel mutation c.860C>A, resulting in a missense substitution of amino acids p.Ala287Asp in the GATA3 gene.Clinicians who identify this rare triad of hypoparathyroidism, sensorineural deafness and renal anomalies should further investigate with genetic testing for GATA3 mutations.