title: Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation.
abstract: Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafness, present in the father. The patient was subsequently diagnosed and found to be a heterozygote for an insertion mutation c.255_256ins4 (GTGC) in exon 2 of GATA3. His father was also confirmed to have the same mutation in GATA3.
authors.affiliation: Department of Pediatrics, Hallym University College of Medicine, Seoul, Korea.
authors.forename: Yong Suk
authors.initials: YS
authors.lastname: Shim
authors.affiliation: Department of Pediatrics, Hallym University College of Medicine, Seoul, Korea.
authors.forename: Woohyeok
authors.initials: W
authors.lastname: Choi
authors.affiliation: Department of Pediatrics, Hallym University College of Medicine, Seoul, Korea.
authors.forename: Il Tae
authors.initials: IT
authors.lastname: Hwang
authors.affiliation: Department of Pediatrics, Hallym University College of Medicine, Seoul, Korea.
authors.forename: Seung
authors.initials: S
authors.lastname: Yang
keywords: GATA3; Hypoparathyroidism; Renal dysgenesis; Sensorineural hearing loss