Facial asymmetry and clinical manifestations in patients with novel insertion of the TCOF1 gene

作者：Su P H; Liu Y F; Yu J S; Chen J Y; Chen S J; Lai Y J^*

来源：Clinical Genetics, 2012, 82(5): 460-465.

DOI：10.1111/j.1399-0004.2011.01765.x

• congenital craniofacial anomalies
• frameshift
• hemifacialmicrosomia
• insertion mutation
• TCOF1 gene

Su P-H, Liu Y-F, Yu J-S, Chen J-Y, Chen S-J, Lai Y-J. Facial asymmetry and clinical manifestations in patients with novel insertion of the TCOF1 gene. This study explored the role of TCOF1 insertion mutations in Taiwanese patients with craniofacial anomalies. Twelve patients with single or multiple, asymmetrical congenital craniofacial anomalies were enrolled. Genomic DNA was prepared from leukocytes; the coding regions of TCOF1 were analyzed by polymerase chain reaction and direct sequencing. Clinical manifestations were correlated to the TCOF1 mutation. Six of 12 patients diagnosed with hemifacialmicrosomia exhibited a novel insertion mutation 4127 ins G (frameshift) in exon 24 in the TCOF1 gene. All six patients were diagnosed with anomalies on the left side. In addition, four of these six patients had hearing impairment; three had other major anomalies; and two had developmental delay. The insertion caused a frameshift, an early truncation, the loss of two putative nuclear localization signals (residues 14041420 and 14241440), and the loss of coiled coil domain (14061426) in treacle protein. These findings support the existence of two regulators of growth of the mandibular condyles.

• 出版日期2012-11