Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families

The aim of this study was to identify the genetic defect that is responsible for aniridia and congenital cataracts in two Tunisian families. Sequencing of the PAX6 gene in family F1 detected a novel c.265C>T transition in exon 6. In family F2, the previously described c.718C>T mutation in PAX6...

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Autores principales: Chograni, Manèl, Derouiche, Kaouther, Chaabouni, Myriam, Lariani, Imen, Bouhamed, Habiba Chaabouni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
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Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785518/
https://www.ncbi.nlm.nih.gov/pubmed/27081502
http://dx.doi.org/10.1038/hgv.2014.8
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author Chograni, Manèl
Derouiche, Kaouther
Chaabouni, Myriam
Lariani, Imen
Bouhamed, Habiba Chaabouni
author_facet Chograni, Manèl
Derouiche, Kaouther
Chaabouni, Myriam
Lariani, Imen
Bouhamed, Habiba Chaabouni
author_sort Chograni, Manèl
collection PubMed
description The aim of this study was to identify the genetic defect that is responsible for aniridia and congenital cataracts in two Tunisian families. Sequencing of the PAX6 gene in family F1 detected a novel c.265C>T transition in exon 6. In family F2, the previously described c.718C>T mutation in PAX6 was detected in the four affected members. This study adds new mutation to those previously reported in PAX6, providing further evidence for the genetic and phenotypic heterogeneity in individuals with aniridia ocular malformations.
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spelling pubmed-47855182016-04-14 Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families Chograni, Manèl Derouiche, Kaouther Chaabouni, Myriam Lariani, Imen Bouhamed, Habiba Chaabouni Hum Genome Var Article The aim of this study was to identify the genetic defect that is responsible for aniridia and congenital cataracts in two Tunisian families. Sequencing of the PAX6 gene in family F1 detected a novel c.265C>T transition in exon 6. In family F2, the previously described c.718C>T mutation in PAX6 was detected in the four affected members. This study adds new mutation to those previously reported in PAX6, providing further evidence for the genetic and phenotypic heterogeneity in individuals with aniridia ocular malformations. Nature Publishing Group 2014-09-04 /pmc/articles/PMC4785518/ /pubmed/27081502 http://dx.doi.org/10.1038/hgv.2014.8 Text en Copyright © 2014 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-nd/3.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported 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/3.0/
spellingShingle Article
Chograni, Manèl
Derouiche, Kaouther
Chaabouni, Myriam
Lariani, Imen
Bouhamed, Habiba Chaabouni
Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families
title Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families
title_full Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families
title_fullStr Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families
title_full_unstemmed Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families
title_short Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families
title_sort molecular analysis of the pax6 gene for aniridia and congenital cataracts in tunisian families
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785518/
https://www.ncbi.nlm.nih.gov/pubmed/27081502
http://dx.doi.org/10.1038/hgv.2014.8
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