|
KMID : 1036920150200010059
|
|
Annals of Pediatric Endocrinology & Metabolism
2015 Volume.20 No. 1 p.59 ~ p.63
|
|
|
Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation
|
|
Shim Yong-Suk
Choi Woo-Hyeok
Hwang Il-Tae
Yang Seung
|
|
|
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.
|
|
|
KEYWORD
|
|
|
Hypoparathyroidism, Sensorineural hearing loss, Renal dysgenesis, GATA3
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
  
|