Identification of a novel splicing mutation of PHEX gene in a pedigree affected with X-linked hypophosphatemia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 216-219, 2017.
Artículo
en Chino
| WPRIM
| ID: wpr-335152
ABSTRACT
<p><b>OBJECTIVE</b>To identify potential mutation of PHEX gene in two patients from a family affected with X-linked hypophosphatemia (XLH).</p><p><b>METHODS</b>PCR and Sanger sequencing were performed on blood samples from the patients and 100 healthy controls. Reverse transcription-PCR (RT-PCR) was used to determine the mRNA expression in patient samples.</p><p><b>RESULTS</b>A splicing site mutation, IVS21+2T>G, was found in the PHEX gene in both patients but not among the 100 healthy controls. RT-PCR confirmed that exon 21 of the PHEX gene was deleted.</p><p><b>CONCLUSION</b>The novel splicing mutation IVS21+2T>G of the PHEX gene probably underlies the XLH in this pedigree. At the mRNA level, the mutation has led to removal of exon 21 and shift of the open reading frame (p.Val691fsx), resulting in premature termination of protein translation.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Análisis Mutacional de ADN
/
Datos de Secuencia Molecular
/
Secuencia de Bases
/
Empalme del ARN
/
Exones
/
Enfermedades Genéticas Ligadas al Cromosoma X
/
Raquitismo Hipofosfatémico Familiar
/
Endopeptidasa Neutra Reguladora de Fosfato PHEX
/
Genética
Tipo de estudio:
Estudio diagnóstico
Límite:
Adulto
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2017
Tipo del documento:
Artículo
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