Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation
Annals of Pediatric Endocrinology & Metabolism
;
: 59-63, 2015.
Article
in English
| WPRIM
| ID: wpr-115861
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Exons
/
Mutagenesis, Insertional
/
Deafness
/
Fathers
/
Hearing Loss, Sensorineural
/
Heterozygote
/
Hypoparathyroidism
Limits:
Humans
Language:
English
Journal:
Annals of Pediatric Endocrinology & Metabolism
Year:
2015
Type:
Article
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