A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome
Craniofrontonasal syndrome (CNFS) is an X-linked disorder caused by mutations in the EFNB1 gene in which, paradoxically, heterozygous females are more severely affected than hemizygous males. In this paper, the clinical and molecular studies of a female subject with CFNS are described. A novel de no...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2013/349725 |
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| author | M. A. Ramirez-Garcia O. F. Chacon-Camacho C. Leyva-Hernandez A. Cardenas-Conejo J. C. Zenteno |
| author_facet | M. A. Ramirez-Garcia O. F. Chacon-Camacho C. Leyva-Hernandez A. Cardenas-Conejo J. C. Zenteno |
| author_sort | M. A. Ramirez-Garcia |
| collection | DOAJ |
| description | Craniofrontonasal syndrome (CNFS) is an X-linked disorder caused by mutations in the EFNB1 gene in which, paradoxically, heterozygous females are more severely affected than hemizygous males. In this paper, the clinical and molecular studies of a female subject with CFNS are described. A novel de novo c.473T>C (p.M158T) mutation in exon 3 of EFNB1 was demonstrated in this patient. The M158 residue of the Ephrin-B1 protein is highly conserved between species. Our results expand the mutational spectrum exposed by CNFS. |
| format | Article |
| id | doaj-art-d11ae94a2843476791ee20c0de042b43 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-d11ae94a2843476791ee20c0de042b432025-02-03T06:07:47ZengWileyCase Reports in Genetics2090-65442090-65522013-01-01201310.1155/2013/349725349725A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal SyndromeM. A. Ramirez-Garcia0O. F. Chacon-Camacho1C. Leyva-Hernandez2A. Cardenas-Conejo3J. C. Zenteno4Genetics Department, UMAE Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, Cuauhtémoc 330, Colonia Doctores, 06720 México, DF, MexicoGenetics Department and Research Unit, Instituto de Oftalmología “Conde de Valenciana,” Chimalpopoca 14, Colonia Obrera, 06800 México, DF, MexicoGenetics Department, Hospital General Gaudencio González Garza, Centro Médico Nacional La Raza, IMSS, Calzada Vallejo, Colonia Azcapotzalco, 02990 México, DF, MexicoGenetics Department, UMAE Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, Cuauhtémoc 330, Colonia Doctores, 06720 México, DF, MexicoGenetics Department and Research Unit, Instituto de Oftalmología “Conde de Valenciana,” Chimalpopoca 14, Colonia Obrera, 06800 México, DF, MexicoCraniofrontonasal syndrome (CNFS) is an X-linked disorder caused by mutations in the EFNB1 gene in which, paradoxically, heterozygous females are more severely affected than hemizygous males. In this paper, the clinical and molecular studies of a female subject with CFNS are described. A novel de novo c.473T>C (p.M158T) mutation in exon 3 of EFNB1 was demonstrated in this patient. The M158 residue of the Ephrin-B1 protein is highly conserved between species. Our results expand the mutational spectrum exposed by CNFS.http://dx.doi.org/10.1155/2013/349725 |
| spellingShingle | M. A. Ramirez-Garcia O. F. Chacon-Camacho C. Leyva-Hernandez A. Cardenas-Conejo J. C. Zenteno A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome Case Reports in Genetics |
| title | A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome |
| title_full | A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome |
| title_fullStr | A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome |
| title_full_unstemmed | A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome |
| title_short | A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome |
| title_sort | novel de novo efnb1 gene mutation in a mexican patient with craniofrontonasal syndrome |
| url | http://dx.doi.org/10.1155/2013/349725 |
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