A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism Deafness and Renal Dysplasia (HDR) syndrome

摘要

BackgroundHypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder caused by mutations in the zinc finger transcription factor gene, GATA3. GATA3 has 2 zinc finger domains, which play an important role in the increase in target gene transcription activity.