A Case of Treacher Collins Syndrome

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a hetero...

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Autores principales: Ulusal, S, Gürkan, H, Vatansever, Ü, Kürkçü, K, Tozkir, H, Acunaş, BA
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Macedonian Science of Sciences and Arts 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001420/
https://www.ncbi.nlm.nih.gov/pubmed/24778568
http://dx.doi.org/10.2478/bjmg-2013-0036
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author Ulusal, S
Gürkan, H
Vatansever, Ü
Kürkçü, K
Tozkir, H
Acunaş, BA
author_facet Ulusal, S
Gürkan, H
Vatansever, Ü
Kürkçü, K
Tozkir, H
Acunaş, BA
author_sort Ulusal, S
collection PubMed
description Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c.1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c.1021_1022delAG mutation.
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spelling pubmed-40014202014-04-28 A Case of Treacher Collins Syndrome Ulusal, S Gürkan, H Vatansever, Ü Kürkçü, K Tozkir, H Acunaş, BA Balkan J Med Genet Case Report Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c.1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c.1021_1022delAG mutation. Macedonian Science of Sciences and Arts 2013-12 2013-11-03 /pmc/articles/PMC4001420/ /pubmed/24778568 http://dx.doi.org/10.2478/bjmg-2013-0036 Text en © Macedonian Academy of Sciences and Arts This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivs license (http://creativecommons.org/licenses/by-nc-nd/3.0/), which means that the text may be used for non-commercial purposes, provided credit is given to the author.
spellingShingle Case Report
Ulusal, S
Gürkan, H
Vatansever, Ü
Kürkçü, K
Tozkir, H
Acunaş, BA
A Case of Treacher Collins Syndrome
title A Case of Treacher Collins Syndrome
title_full A Case of Treacher Collins Syndrome
title_fullStr A Case of Treacher Collins Syndrome
title_full_unstemmed A Case of Treacher Collins Syndrome
title_short A Case of Treacher Collins Syndrome
title_sort case of treacher collins syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001420/
https://www.ncbi.nlm.nih.gov/pubmed/24778568
http://dx.doi.org/10.2478/bjmg-2013-0036
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