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
Mutations 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...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Genética
2014-12-01
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| Series: | Genetics and Molecular Biology |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000500003&lng=en&tlng=en |
| _version_ | 1811195872345587712 |
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| author | Thatiane Yoshie Kanazawa Luciana Cardoso Bonadia Denise Pontes Cavalcanti |
| author_facet | Thatiane Yoshie Kanazawa Luciana Cardoso Bonadia Denise Pontes Cavalcanti |
| author_sort | Thatiane Yoshie Kanazawa |
| collection | DOAJ |
| description | Mutations 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. |
| first_indexed | 2024-04-12T00:49:44Z |
| format | Article |
| id | doaj.art-c753bc1e7e854b6a9cbd85fc1eee1740 |
| institution | Directory Open Access Journal |
| issn | 1678-4685 |
| language | English |
| last_indexed | 2024-04-12T00:49:44Z |
| publishDate | 2014-12-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-c753bc1e7e854b6a9cbd85fc1eee17402022-12-22T03:54:46ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1678-46852014-12-0137462262410.1590/S1415-47572014000500003S1415-47572014000500003Frequency 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 phenotypesThatiane Yoshie Kanazawa0Luciana Cardoso Bonadia1Denise Pontes Cavalcanti2Universidade Estadual de CampinasUniversidade Estadual de CampinasUniversidade Estadual de CampinasMutations 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000500003&lng=en&tlng=enFGFR3F384Lhypochondroplasiaskeletal dysplasia |
| spellingShingle | Thatiane Yoshie Kanazawa Luciana Cardoso Bonadia Denise Pontes Cavalcanti 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 Genetics and Molecular Biology FGFR3 F384L hypochondroplasia skeletal dysplasia |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | FGFR3 F384L hypochondroplasia skeletal dysplasia |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000500003&lng=en&tlng=en |
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