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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Autores principales: Ramirez-Garcia, M. A., Chacon-Camacho, O. F., Leyva-Hernandez, C., Cardenas-Conejo, A., Zenteno, J. C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3594931/
https://www.ncbi.nlm.nih.gov/pubmed/23509643
http://dx.doi.org/10.1155/2013/349725
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author Ramirez-Garcia, M. A.
Chacon-Camacho, O. F.
Leyva-Hernandez, C.
Cardenas-Conejo, A.
Zenteno, J. C.
author_facet Ramirez-Garcia, M. A.
Chacon-Camacho, O. F.
Leyva-Hernandez, C.
Cardenas-Conejo, A.
Zenteno, J. C.
author_sort Ramirez-Garcia, M. A.
collection PubMed
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.
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spelling pubmed-35949312013-03-18 A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome Ramirez-Garcia, M. A. Chacon-Camacho, O. F. Leyva-Hernandez, C. Cardenas-Conejo, A. Zenteno, J. C. Case Rep Genet Case Report 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. Hindawi Publishing Corporation 2013 2013-02-21 /pmc/articles/PMC3594931/ /pubmed/23509643 http://dx.doi.org/10.1155/2013/349725 Text en Copyright © 2013 M. A. Ramirez-Garcia et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Ramirez-Garcia, M. A.
Chacon-Camacho, O. F.
Leyva-Hernandez, C.
Cardenas-Conejo, A.
Zenteno, J. C.
A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome
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
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3594931/
https://www.ncbi.nlm.nih.gov/pubmed/23509643
http://dx.doi.org/10.1155/2013/349725
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