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.
Artículo
en Chino
| WPRIM
| ID: wpr-344208
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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Análisis Mutacional de ADN
/
Repeticiones de Microsatélite
/
Diagnóstico
/
Raquitismo Hipofosfatémico Familiar
/
Endopeptidasa Neutra Reguladora de Fosfato PHEX
/
Exoma
/
Secuenciación Completa del Genoma
/
Genética
/
Mutación
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Adulto
/
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2017
Tipo del documento:
Artículo
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