GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome.
World J Pediatr
; 10(3): 278-80, 2014 Aug.
Article
em En
| MEDLINE
| ID: mdl-25124981
ABSTRACT
BACKGROUND:
The hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by GATA3 gene mutation. We report here a case that both of a Chinese boy and his father had HDR syndrome which caused by a novel mutation of GATA3.METHODS:
Polymerase chain reaction and DNA sequencing was performed to detect the exons of the GATA3 gene for mutation analysis.RESULTS:
Sequence analysis of GATA3 revealed a heterozygous nonsense mutation in this family a mutation of GATA3 at exon 2 (c.515C >A) that resulted in a premature stop at codon 172 (p.S172X) with a loss of two zinc finger domains.CONCLUSION:
We identified a novel nonsense mutation which will expand the spectrum of HDR-associated GATA3 mutations.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Códon sem Sentido
/
Rim Displásico Multicístico
/
Surdez
/
Povo Asiático
/
Fator de Transcrição GATA3
/
Hipoparatireoidismo
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
/
Child
/
Humans
/
Male
Idioma:
En
Revista:
World J Pediatr
Ano de publicação:
2014
Tipo de documento:
Article