A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disease characterized by a narrowed horizontal palpehral aperture, ptosis, epicanthus inversus and telecanthus with or without premature ovarian failure. Mutations in the forkhead transcription factor...

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Autores principales: Tan, Hu, Yang, Pu, Li, Haoxian, Pan, Qian, Liang, Desheng, Wu, Lingqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785579/
https://www.ncbi.nlm.nih.gov/pubmed/27081523
http://dx.doi.org/10.1038/hgv.2015.8
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author Tan, Hu
Yang, Pu
Li, Haoxian
Pan, Qian
Liang, Desheng
Wu, Lingqian
author_facet Tan, Hu
Yang, Pu
Li, Haoxian
Pan, Qian
Liang, Desheng
Wu, Lingqian
author_sort Tan, Hu
collection PubMed
description Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disease characterized by a narrowed horizontal palpehral aperture, ptosis, epicanthus inversus and telecanthus with or without premature ovarian failure. Mutations in the forkhead transcription factor 2 (FOXL2) have been shown to be responsible for BPES. We performed direct sequencing of the FOXL2 gene for molecular investigation of a Chinese family with BPES. A novel duplication mutation (c.858_868dup), resulting in a truncated protein, was detected.
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spelling pubmed-47855792016-04-14 A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome Tan, Hu Yang, Pu Li, Haoxian Pan, Qian Liang, Desheng Wu, Lingqian Hum Genome Var Data Report Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disease characterized by a narrowed horizontal palpehral aperture, ptosis, epicanthus inversus and telecanthus with or without premature ovarian failure. Mutations in the forkhead transcription factor 2 (FOXL2) have been shown to be responsible for BPES. We performed direct sequencing of the FOXL2 gene for molecular investigation of a Chinese family with BPES. A novel duplication mutation (c.858_868dup), resulting in a truncated protein, was detected. Nature Publishing Group 2015-03-19 /pmc/articles/PMC4785579/ /pubmed/27081523 http://dx.doi.org/10.1038/hgv.2015.8 Text en Copyright © 2015 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Data Report
Tan, Hu
Yang, Pu
Li, Haoxian
Pan, Qian
Liang, Desheng
Wu, Lingqian
A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome
title A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome
title_full A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome
title_fullStr A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome
title_full_unstemmed A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome
title_short A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome
title_sort novel foxl2 mutation in a chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785579/
https://www.ncbi.nlm.nih.gov/pubmed/27081523
http://dx.doi.org/10.1038/hgv.2015.8
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