Novel Compound Heterozygous Mutations in the Vitamin D Receptor Gene in a Korean Girl with Hereditary Vitamin D Resistant Rickets
Journal of Korean Medical Science
;
: 1111-1114, 2011.
Artigo
em Inglês
| WPRIM
| ID: wpr-100566
ABSTRACT
Hereditary vitamin D resistant rickets (HVDRR) is a rare genetic disorder caused by a mutation of vitamin D receptor (VDR) gene. A number of cases had been reported in many countries but not in Korea. We examined a three-year old Korean girl who had the typical clinical features of HVDRR including rickets, hypocalcemia, hypophosphatemia, elevated serum calcitriol level and secondary hyperparathyroidism. The girl and her father were both heterozygous for the 719 C-to-T (I146T) mutation in exon 4, whereas she and her mother were both heterozygous for 754 C-to-T (R154C) mutation in exon 5 of the VDR gene. In this familial study, we concluded that the girl had compound heterozygous mutations in her VDR gene which caused HVDRR. This is the first report of a unique mutation in the VDR gene in Korea.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Osso e Ossos
/
Análise Mutacional de DNA
/
Sequência de Bases
/
Éxons
/
Mutação Puntual
/
Receptores de Calcitriol
/
Povo Asiático
/
Raquitismo Hipofosfatêmico Familiar
/
República da Coreia
/
Heterozigoto
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2011
Tipo de documento:
Artigo
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