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.
Article
Dans Chinois
| WPRIM
| ID: wpr-297253
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>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Études rétrospectives
/
Rachitisme hypophosphatémique familial
/
PHEX Phosphate regulating neutral endopeptidase
/
Séquençage nucléotidique à haut débit
/
Génétique
/
Mutation
Type d'étude:
Étude observationnelle
Limites du sujet:
Enfant
/
Enfant d'âge préscolaire
/
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Contemporary Pediatrics
Année:
2017
Type:
Article
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