Frequency Of The Allelic Variant C.1150t > C In Exon 10 Of The Fibroblast Growth Factor Receptor 3 (fgfr3) Gene Is Not Increased In Patients With Pathogenic Mutations And Related Chondrodysplasia Phenotypes.

dc.creatorKanazawa, Thatiane Yoshie
dc.creatorBonadia, Luciana Cardoso
dc.creatorCavalcanti, Denise Pontes
dc.date2014-Oct
dc.date2015-11-27T13:43:54Z
dc.date2015-11-27T13:43:54Z
dc.date.accessioned2018-03-29T01:22:48Z
dc.date.available2018-03-29T01:22:48Z
dc.identifierGenetics And Molecular Biology. v. 37, n. 4, p. 622-4, 2014-Oct.
dc.identifier1415-4757
dc.identifier10.1590/S1415-47572014005000014
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/25505835
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/201928
dc.identifier25505835
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1302161
dc.descriptionMutations in the FGFR3 gene cause the phenotypic spectrum of FGFR3 chondrodysplasias ranging from lethal forms to the milder phenotype seen in hypochondroplasia (Hch). The p.N540K mutation in the FGFR3 gene occurs in ∼70% of individuals with Hch, and nearly 30% of individuals with the Hch phenotype have no mutations in the FGFR3, which suggests genetic heterogeneity. The identification of a severe case of Hch associated with the typical mutation c.1620C > A and the occurrence of a c.1150T > C change that resulted in a p.F384L in exon 10, together with the suspicion that this second change could be a modulator of the phenotype, prompted us to investigate this hypothesis in a cohort of patients. An analysis of 48 patients with FGFR3 chondrodysplasia phenotypes and 330 healthy (control) individuals revealed no significant difference in the frequency of the C allele at the c.1150 position (p = 0.34). One patient carrying the combination `pathogenic mutation plus the allelic variant c.1150T > C' had a typical achondroplasia (Ach) phenotype. In addition, three other patients with atypical phenotypes showed no association with the allelic variant. Together, these results do not support the hypothesis of a modulatory role for the c.1150T > C change in the FGFR3 gene.
dc.description37
dc.description622-4
dc.languageeng
dc.relationGenetics And Molecular Biology
dc.relationGenet. Mol. Biol.
dc.rightsaberto
dc.rights
dc.sourcePubMed
dc.subjectF384l
dc.subjectFgfr3
dc.subjectHypochondroplasia
dc.subjectSkeletal Dysplasia
dc.titleFrequency Of The Allelic Variant C.1150t > C In Exon 10 Of The Fibroblast Growth Factor Receptor 3 (fgfr3) Gene Is Not Increased In Patients With Pathogenic Mutations And Related Chondrodysplasia Phenotypes.
dc.typeArtículos de revistas


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