dc.contributor.author | Morey, Marcos | |
dc.contributor.author | Castro-Feijóo, Lidia | |
dc.contributor.author | Barreiro, Jesús L. | |
dc.contributor.author | Cabanas, Paloma | |
dc.contributor.author | Pombo, Manuel V. | |
dc.contributor.author | Gil, Marta | |
dc.contributor.author | Bernabéu, Ignacio J. | |
dc.contributor.author | Díaz-Grande, José M. | |
dc.contributor.author | Rey-Cordo, Lourdes | |
dc.contributor.author | Ariceta, Gema | |
dc.contributor.author | Rica, Itxaso | |
dc.contributor.author | Nieto, José Luciano | |
dc.contributor.author | Vilalta, Ramón | |
dc.contributor.author | Martorell, Loreto A. | |
dc.contributor.author | Vila Cots, Jaime | |
dc.contributor.author | Aleixandre, Fernando A. | |
dc.contributor.author | Fontalba, Ana | |
dc.contributor.author | Soriano Guillén, Leandro | |
dc.contributor.author | García-Sagredo, José Miguel | |
dc.contributor.author | García-Miñaúr, Sixto | |
dc.contributor.author | Rodríguez, Berta | |
dc.contributor.author | Juaristi, Saioa | |
dc.contributor.author | García Pardos, Carmen | |
dc.contributor.author | Martínez Peinado, Antonio | |
dc.contributor.author | Millán, José María | |
dc.contributor.author | Medeira, Ana Maria Duarte | |
dc.contributor.author | Moldovan, Oana | |
dc.contributor.author | Fernández, Angeles I. | |
dc.contributor.author | Loidi, Lourdes | |
dc.contributor.other | UAM. Departamento de Pediatría | es_ES |
dc.date.accessioned | 2014-10-24T10:55:26Z | |
dc.date.available | 2014-10-24T10:55:26Z | |
dc.date.issued | 2011-09-08 | |
dc.identifier.citation | BMC Medical Genetics 12 (2011): 116 | es_ES |
dc.identifier.issn | 1471-2350 | es_ES |
dc.identifier.uri | http://hdl.handle.net/10486/662257 | |
dc.description.abstract | Background: Genetic Hypophosphatemic Rickets (HR) is a group of diseases characterized by renal phosphate
wasting with inappropriately low or normal 1,25-dihydroxyvitamin D3 (1,25(OH)2D) serum levels. The most common
form of HR is X-linked dominant HR (XLHR) which is caused by inactivating mutations in the PHEX gene. The
purpose of this study was to perform genetic diagnosis in a cohort of patients with clinical diagnosis of HR, to
perform genotype-phenotype correlations of those patients and to compare our data with other HR cohort studies.
Methods: Forty three affected individuals from 36 non related families were analyzed. For the genetic analysis, the
PHEX gene was sequenced in all of the patients and in 13 cases the study was complemented by mRNA
sequencing and Multiple Ligation Probe Assay. For the genotype-phenotype correlation study, the clinical and
biochemical phenotype of the patients was compared with the type of mutation, which was grouped into clearly
deleterious or likely causative, using the Mann-Whitney and Fisher’s exact test.
Results: Mutations in the PHEX gene were identified in all the patients thus confirming an XLHR. Thirty four
different mutations were found distributed throughout the gene with higher density at the 3’ end. The majority of
the mutations were novel (69.4%), most of them resulted in a truncated PHEX protein (83.3%) and were family
specific (88.9%). Tubular reabsorption of phosphate (TRP) and 1,25(OH)2D serum levels were significantly lower in
patients carrying clearly deleterious mutations than in patients carrying likely causative ones (61.39 ± 19.76 vs.
80.14 ± 8.80%, p = 0.028 and 40.93 ± 30.73 vs. 78.46 ± 36.27 pg/ml, p = 0.013).
Conclusions: PHEX gene mutations were found in all the HR cases analyzed, which was in contrast with other
cohort studies. Patients with clearly deleterious PHEX mutations had lower TRP and 1,25(OH)2D levels suggesting
that the PHEX type of mutation might predict the XLHR phenotype severity. | en_US |
dc.description.sponsorship | MM
was supported by Xunta de Galicia (INCITE Lucas Labrada) and LL by a grant
from Xunta de Galicia (PGIDIT06PXIC9101136PN). | en_US |
dc.format.extent | 11 pag. | es_ES |
dc.format.mimetype | application/pdf | es_ES |
dc.language.iso | eng | en |
dc.publisher | BioMed Central | en_US |
dc.relation.ispartof | BMC Medical Genetics | en_US |
dc.rights | © 2011 Morey et al; licensee BioMed Central Ltd. | es_ES |
dc.subject.other | PHEX gene | en_US |
dc.subject.other | XLHR phenotype severity | en_US |
dc.title | Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type | es_ES |
dc.type | article | en |
dc.subject.eciencia | Medicina | es_ES |
dc.relation.publisherversion | http://dx.doi.org/10.1186/1471-2350-12-116 | es_ES |
dc.identifier.doi | 10.1186/1471-2350-12-116 | es_ES |
dc.identifier.publicationfirstpage | 116 | es_ES |
dc.identifier.publicationvolume | 12 | es_ES |
dc.type.version | info:eu-repo/semantics/publishedVersion | en |
dc.rights.cc | Reconocimiento | es_ES |
dc.rights.accessRights | openAccess | en |
dc.facultadUAM | Facultad de Medicina | |