Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation.
10.6065/apem.2015.20.1.59
- Author:
Yong Suk SHIM
1
;
Woohyeok CHOI
;
Il Tae HWANG
;
Seung YANG
Author Information
1. Department of Pediatrics, Hallym University College of Medicine, Seoul, Korea. jxisfriend@gmail.com
- Publication Type:Case Report
- Keywords:
Hypoparathyroidism;
Sensorineural hearing loss;
Renal dysgenesis;
GATA3
- MeSH:
Deafness*;
Exons;
Fathers;
Hearing Loss, Sensorineural;
Heterozygote;
Humans;
Hypoparathyroidism*;
Mutagenesis, Insertional
- From:Annals of Pediatric Endocrinology & Metabolism
2015;20(1):59-63
- CountryRepublic of Korea
- Language:English
-
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.
