Mutational analysis and prenatal diagnosis in a family affected with hypophosphatemic rickets / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 633-636, 2017.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-344208
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To explore the clinical characteristics and genetic mutation in a family affected with hypophosphatemic rickets.</p><p><b>METHODS</b>Whole exome sequencing (WES) was used to screen potential mutations in genomic DNA extracted from peripheral venous blood sample from the proband. Suspected mutation was confirmed with Sanger sequencing. Amniotic fluid was sampled from the proband for prenatal diagnosis. Potential maternal contamination was excluded by analysis of short tandem repeat (STR) markers.</p><p><b>RESULTS</b>WES has identified a heterozygous c.2058_2059insAGTT (p.L686fs) mutation of the PHEX gene in the proband, which was confirmed by Sanger sequencing in other affected individuals from the family. The mutation was detected in the amniotic fluid sample from the fetus but not among healthy members from the family.</p><p><b>CONCLUSION</b>Identification of the PHEX mutation by WES has facilitated genetic counseling and prenatal diagnosis for the family affected with hypophosphatemic rickets.</p>
Texto completo:
Disponível
Contexto em Saúde:
ODS3 - Saúde e Bem-Estar
/
ODS3 - Meta 3.4 Reduzir as mortes prematuras devido doenças não transmissíveis
Problema de saúde:
Meta 3.1: Reduzir a mortalidade materna
/
Doenças do Sistema Endócrino
/
Desnutrição e Deficiências Nutricionais
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
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Análise Mutacional de DNA
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Repetições de Microssatélites
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Diagnóstico
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Raquitismo Hipofosfatêmico Familiar
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Endopeptidase Neutra Reguladora de Fosfato PHEX
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Exoma
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Sequenciamento Completo do Genoma
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Genética
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Mutação
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2017
Tipo de documento:
Artigo