A CASE OF TREACHER COLLINS SYNDROME

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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Bibliographic Details
Main Authors: Ulusal S., Gürkan H., Vatansever Ü., Kürkçü K., Tozkir H., Acunaş Ba.
Format: Article
Language:English
Published: Sciendo 2013-12-01
Series:Balkan Journal of Medical Genetics
Subjects:
tcof1 gene
treacher collins syndrome (tcs)
mandibulofacial dysostosis
de novo mutation
Online Access:https://doi.org/10.2478/bjmg-2013-0036
Description
Summary: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
ISSN:1311-0160

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