<abstract xmlns="http://www.w3.org/1999/xhtml"><p> 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</p></abstract>

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

A CASE OF TREACHER COLLINS SYNDROME

Department of Medical Genetics, Trakya University, Faculty of Medicine, Edirne, Turkey

Department of Pediatrics, Trakya University, Faculty of Medicine, Edirne, Turkey

Burç Genetik Diagnosis Center, Istanbul, Turkey

Balkan Journal of Medical Genetics

{"article-title":"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...

A CASE OF TREACHER COLLINS SYNDROME

Pubblicato online: 11 mar 2014

Pagine: 77 - 80

DOI: https://doi.org/10.2478/bjmg-2013-0036

Parole chiave
TCOF1 gene, Treacher Collins syndrome (TCS), Mandibulofacial dysostosis, De novo mutation

This content is open access.

A CASE OF TREACHER COLLINS SYNDROME

Pubblicato online: 11 mar 2014

Pagine: 77 - 80

DOI: https://doi.org/10.2478/bjmg-2013-0036

Parole chiaveTCOF1 gene, Treacher Collins syndrome (TCS), Mandibulofacial dysostosis, De novo mutation

This content is open access.

Parole chiave
TCOF1 gene, Treacher Collins syndrome (TCS), Mandibulofacial dysostosis, De novo mutation