title: Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome.
abstract: Treacher Collins syndrome is an autosomal dominant craniofacial malformation mainly caused by mutations in the TCOF1 gene. Few cases have been observed in the Chinese population. Herein, the authors report the mutational analysis of TCOF1, GSC, and HOXA2 to determine the mutational features of the 3 genes in Chinese patients with Treacher Collins syndrome. Genomic DNA of the patients and their parents was extracted from peripheral blood following a standard protocol. DNA sequencing analysis was performed on all exons and the exon-intron borders of TCOF1, GSC, and HOXA2 in addition to the 1200-bp upstream of TCOF1. Four novel single nucleotide polymorphisms were detected in TCOF1, one of which was in the promoter region. Mutations in GSC and HOXA2 were not found in the 3 patients. Our results suggest the possibility of genetic heterogeneity or different mechanisms leading to the disease. Further functional study of the alteration is necessary to obtain more definitive information.
authors.affiliation: *Department of Otorhinolaryngology, Eye and ENT Hospital of Fudan University, Shanghai †Department of Otorhinolaryngology, The First Affiliated Hospital of Zhengzhou University, Henan ‡Birth Defect & Pathology Research Center, Institutes of Biomedical Sciences, Fudan University §Key Laboratory of Molecular Medicine, Ministry of Education, Shanghai Medical College, Fudan University, Shanghai, China.
authors.forename: Shaojuan
authors.initials: S
authors.lastname: Hao
authors.forename: Lei
authors.initials: L
authors.lastname: Jin
authors.forename: Huijun
authors.initials: H
authors.lastname: Wang
authors.forename: Chenlong
authors.initials: C
authors.lastname: Li
authors.forename: Fengyun
authors.initials: F
authors.lastname: Zheng
authors.forename: Duan
authors.initials: D
authors.lastname: Ma
authors.forename: Tianyu
authors.initials: T
authors.lastname: Zhang
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods*; D051956:Goosecoid Protein / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: C497992:GSC protein, human; D051956:Goosecoid Protein; C520321:HOXA2 protein, human; D018398:Homeodomain Proteins; D009687:Nuclear Proteins; D010750:Phosphoproteins; C105442:TCOF1 protein, human