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 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.
Department of Medical Genetics, Trakya University, Faculty of Medicine, Edirne, Turkey.
S
S
Ulusal
Department of Medical Genetics, Trakya University, Faculty of Medicine, Edirne, Turkey.
H
H
Gürkan
Department of Pediatrics, Trakya University, Faculty of Medicine, Edirne, Turkey.
U
U
Vatansever
Burç Genetik Diagnosis Center, Istanbul, Turkey.
K
K
Kürkçü
Department of Medical Genetics, Trakya University, Faculty of Medicine, Edirne, Turkey.
H
H
Tozkir
Department of Pediatrics, Trakya University, Faculty of Medicine, Edirne, Turkey.
Ba
B
Acunaş
De novo mutation; Mandibulofacial dysostosis; TCOF1 gene; Treacher Collins syndrome (TCS)