A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome

What this study adds?A novel heterozygous missense mutation p.R276Q(c.827G>A) in exon 4 of GATA3 gene was identified by DNA sequencing.The lack of this mutation in family members suggests that this is a de novo mutation, however, presence of renal anomaly in the mother suggested plausible mosaic somatic mutation in her ovaries and kidneys. What is already knoWn on this topic?Hypoparathyroidism, deafness, and renal dysplasia is a rare syndrome, generally inherited dominantly and characterized with classic triad of hypoparathyroidism, deafness, and renal dysplasia.It is usually related to GATA3 (GATA binding protein 3) gene mutations.Hypoparathyroidism, deafness, and renal dysplasia (HDR; OMIM 146255) syndrome is a rare disease, inherited dominantly and found to be related with GATA3 (GATA binding protein 3) gene mutations.A 13-year and 8-month-old boy who presented with hypocalcemia was diagnosed with hypoparathyroidism.He also had dysmorphic facial features, renal anomaly (pelvic kidney), and mild sensorineural hearing loss.His cranial computed tomography revealed multiple calcifications in bilateral centrum semiovale, corona radiata, and basal ganglions suggesting a persistent hypoparathyroidism.Thus, the presence of triad of HDR syndrome was considered, and genetic analysis using a next-generation sequencer identified a novel de novo missense mutation in exon 4 p.R276Q (c.827G>A) of GATA3 gene.This is the second patient who was reported to have a mutation in GATA3 gene from Turkey.In conclusion, although HDR syndrome is a rare condition, it should be kept in mind in patients with hypoparathyroidism.Classical triad can easily be identified if patients diagnosed with hypoparathyroidism are also evaluated with a urinary tract ultrasound and an audiometer.