Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 534-538, 2017.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-297253
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate PHEX gene mutations in 2 patients with X-linked hypophosphatemic rickets (XLH) and their families and to clarify the genetic etiology.</p><p><b>METHODS</b>A retrospective analysis was performed for the clinical data of two patients with XLH. High-throughput sequencing was used to detect the PHEX gene, a pathogenic gene of XLH. PCR-Sanger sequencing was used to verify the distribution of mutations in families.</p><p><b>RESULTS</b>Both patients had novel mutations in the PHEX gene; one patient had a frameshift mutation, c.931dupC, which caused early termination of translation and produced the truncated protein p.Gln311Profs*13; the other patient had a splice site mutation, IVS14+1G>A, which caused the skipping of exon 15 and produced an incomplete amino acid chain. Their parents had normal gene phenotypes.</p><p><b>CONCLUSIONS</b>c.931dupC and IVS14+1G>A are two novel mutations of the PHEX gene and might be the new pathogenic mutations of XLH.</p>
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Estudos Retrospectivos
/
Raquitismo Hipofosfatêmico Familiar
/
Endopeptidase Neutra Reguladora de Fosfato PHEX
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Genética
/
Mutação
Tipo de estudo:
Estudo observacional
Limite:
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2017
Tipo de documento:
Artigo