Gene mutation analysis of X-linked hypophosphatemic rickets / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 928-931, 2013.
Artigo
em Chinês
| WPRIM
| ID: wpr-345677
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the frequency and type of PHEX gene mutations in children with X-linked hypophosphatemic rickets (XLH), the possible presence of mutational hot spots, and the relationship between genotype and clinical phenotype.</p><p><b>METHODS</b>Clinical data of 10 children with XLH was retrospectively reviewed. The relationship between gene mutation type and severity of XLH was evaluated.</p><p><b>RESULTS</b>PHEX gene mutations were detected in all 10 children with XLH, including 6 cases of missense mutation, 2 cases of splice site mutation, 1 case of frameshift mutation, and 1 case of nonsense mutation. Two new mutations, c.2048T>C and IVS14+1delAG, were found. The type of PHEX gene mutation was not associated with the degree of short stature and leg deformity (P=0.571 and 0.467), and the mutation site was also not associated with the degree of short stature and leg deformity (P=0.400 and 1.000).</p><p><b>CONCLUSIONS</b>Missense mutation is the most common type of PHEX gene mutation in children with XLH, and c.2048T>C and IVS14+1delAG are two new PHEX gene mutations. The type and site of PHEX gene mutation are not associated with the severity of XLH.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Estudos Retrospectivos
/
Raquitismo Hipofosfatêmico Familiar
/
Endopeptidase Neutra Reguladora de Fosfato PHEX
/
Genética
/
Mutação
Tipo de estudo:
Estudo observacional
Limite:
Adolescente
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2013
Tipo de documento:
Artigo
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