Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation
Annals of Pediatric Endocrinology & Metabolism
; : 59-63, 2015.
Article
em En
| WPRIM
| ID: wpr-115861
Biblioteca responsável:
WPRO
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.
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Texto completo:
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Base de dados:
WPRIM
Assunto principal:
Éxons
/
Mutagênese Insercional
/
Surdez
/
Pai
/
Perda Auditiva Neurossensorial
/
Heterozigoto
/
Hipoparatireoidismo
Limite:
Humans
Idioma:
En
Revista:
Annals of Pediatric Endocrinology & Metabolism
Ano de publicação:
2015
Tipo de documento:
Article