Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome

Axenfeld-Rieger syndrome (ARS) is characterized by anomalies of the anterior segment of the eye and systemic abnormalities. Mutations in the FOXC1 and PITX2 genes are underlying causes of ARS, but there has been few reports on genetically confirmed ARS in Korea. We identified a novel PITX2 mutation...

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Autores principales: Yun, Jae Won, Cho, Hyun-Kyung, Oh, Soo-Young, Ki, Chang-Seok, Kee, Changwon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3756242/
https://www.ncbi.nlm.nih.gov/pubmed/24003428
http://dx.doi.org/10.3343/alm.2013.33.5.360
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author Yun, Jae Won
Cho, Hyun-Kyung
Oh, Soo-Young
Ki, Chang-Seok
Kee, Changwon
author_facet Yun, Jae Won
Cho, Hyun-Kyung
Oh, Soo-Young
Ki, Chang-Seok
Kee, Changwon
author_sort Yun, Jae Won
collection PubMed
description Axenfeld-Rieger syndrome (ARS) is characterized by anomalies of the anterior segment of the eye and systemic abnormalities. Mutations in the FOXC1 and PITX2 genes are underlying causes of ARS, but there has been few reports on genetically confirmed ARS in Korea. We identified a novel PITX2 mutation (c.300_301delinsT) in 2 Korean patients from a family with ARS. We expand the spectrum of PITX2 mutations and, to the best of our knowledge, this is the first confirmed family of PITX2-related ARS in Korea.
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spelling pubmed-37562422013-09-04 Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome Yun, Jae Won Cho, Hyun-Kyung Oh, Soo-Young Ki, Chang-Seok Kee, Changwon Ann Lab Med Case Report Axenfeld-Rieger syndrome (ARS) is characterized by anomalies of the anterior segment of the eye and systemic abnormalities. Mutations in the FOXC1 and PITX2 genes are underlying causes of ARS, but there has been few reports on genetically confirmed ARS in Korea. We identified a novel PITX2 mutation (c.300_301delinsT) in 2 Korean patients from a family with ARS. We expand the spectrum of PITX2 mutations and, to the best of our knowledge, this is the first confirmed family of PITX2-related ARS in Korea. The Korean Society for Laboratory Medicine 2013-09 2013-08-08 /pmc/articles/PMC3756242/ /pubmed/24003428 http://dx.doi.org/10.3343/alm.2013.33.5.360 Text en © The Korean Society for Laboratory Medicine. http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Yun, Jae Won
Cho, Hyun-Kyung
Oh, Soo-Young
Ki, Chang-Seok
Kee, Changwon
Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome
title Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome
title_full Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome
title_fullStr Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome
title_full_unstemmed Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome
title_short Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome
title_sort novel c.300_301delinst mutation in pitx2 in a korean family with axenfeld-rieger syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3756242/
https://www.ncbi.nlm.nih.gov/pubmed/24003428
http://dx.doi.org/10.3343/alm.2013.33.5.360
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