A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome

Objective The purpose of this study is that analyze the clinical characters of Treacher Collins syndrome (TCS) with the de nove TCOF1 mutation and emphasize the genetic research result. Methods Genomic DNA from the proband and his parents were extracted from 200 to 400 μl of peripheral blood samples. A 4000 pathgenic genes diagnostic screening panel developed by our laboratory group was used for gene mutation screening. The panel covered the TCOF1 (NM_001135243.1), POLR1C (NM_203,290) and POLR1D (NM_015,972) genes associating with TCS. Results We reported a case of typical, complete syndrome with a nonsense mutation c.1622G > A (p.W541*) in exon 11 of TCOF1, who presents bilateral external ears abnormalities, atresia of external auditory canals, antimongoloid slant of the eyes, bilateral partial coloboma of the lateral part of the lower lids, a large and protruding nose, macrostomia, cleft palate and hair displacement anterior to the auricle. Conclusions Our report expands the spectrum of known pathogenic TCOF1 variants associated with TCS in humans.TCOF1 deficiency may cause a severe neonatal presentation with birth defects.