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.
Article
Dans Chinois
| 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>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Analyse de mutations d'ADN
/
Données de séquences moléculaires
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Séquence nucléotidique
/
Épissage des ARN
/
Exons
/
Maladies génétiques liées au chromosome X
/
Rachitisme hypophosphatémique familial
/
PHEX Phosphate regulating neutral endopeptidase
/
Génétique
Type d'étude:
Etude diagnostique
Limites du sujet:
Adulte
/
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2017
Type:
Article
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