目的:本研究的目的是分析具有TCOF1突变的TreacherCollins综合征(TCS)的临床特征,并强调遗传学研究结果。
方法:从200至400μl的外周血样品中提取来自先证者及其父母的基因组DNA。我们实验室小组开发的4000个致病基因诊断筛选小组用于基因突变筛选。面板覆盖了TCOF1(NM_001135243.1),POLR1C(NM_203,290)和POLR1D(NM_015,972)基因与TCS相关。
结果:我们报告了一例典型的,完全综合征,无意义突变c.1622G>A(p。W541*)在TCOF1的外显子11中,表现出双侧外耳异常,外耳道闭锁,眼睛的antimongoloid倾斜,下眼睑外侧部分的双侧部分缺损,一个又大又突出的鼻子,大口,在耳廓前的腭裂和毛发移位。
结论:我们的报告扩大了已知的与人类TCS相关的致病性TCOF1变体的范围。TCOF1缺乏可能导致新生儿出现严重的出生缺陷。
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.