This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of Hypoparathyroidism, sensorineural Deafness and Renal disease (HDR). First described by Barakat et al in 1977, HDR or Barakat syndrome (OMIM 146255) is a rare autosomal dominant multisystem disorder characterized by the triad of hypoparathyroidism (93%), sensorineural deafness (96%), and renal disease (72%). The syndrome is primarily caused by deletions or mutations in in the zinc-finger transcription factor GATA3 (OMIM 131320) located on chromosome 10p (10p14). Patients may present with a congenital anomaly of the kidney or urinary tract detected on routine prenatal ultrasound, hearing loss detected on routine neonatal hearing screen, or signs and symptoms of hypocalcemia (non-febrile seizures, tetany, myalgia, neuromuscular irritability).
Not all individuals with a mutation in the GATA3 gene have these features.
This website was created to share and collect information about clinical findings, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the GATA3 gene.
Sajel Lala Kana, MD, Clinical Geneticist and Assistant Professor in Pediatrics, Nicklaus Children’s Hospital, Florida International University School of Medicine, Miami, Florida, USA, email@example.com
Amin J. Barakat, MD, Professor of Clinical Pediatrics, Georgetown University Medical Center, Washington, DC, USA, firstname.lastname@example.org