目的分析1例携带TCOF1从头变异体的TreacherCollins综合征(TCS)患者的临床特征,并简要分析遗传结果与临床特征的相关性。此外,现就TCS的发病机制及临床治疗作一综述。
登记了一个含有8名成员的TCS的中国谱系。先证者的表型由外科医生评估,然后对先证者进行全外显子组测序。然后我们通过家系中的Sanger测序验证了先证者衍生的变体。分析基因型与表型的相关性。
这项研究是在口腔医院进行的。
中国家系,TCS包含8个成员。
用TCS确定中国家系中的遗传变异。
收集血液样品。
我们报告了一例典型的TCS,具有从头错义变异(NM_001371623.1:c.38T>G,p。(Leu13Arg))在TCOF1的外显子1中,表现出不对称的面部异常,包括睑裂向下倾斜,稀疏的眉毛,眼球的横向倾斜,双侧外耳畸形,脸中部发育不全,减少颧骨的身体,双侧轨道内陷,右外耳道闭锁,下颌支短畸形,腭裂,整个面部凸起。
这项研究在中文中发现了TCS的一种新变体,扩大TCS致病变种的范围。遗传结果结合临床表型可以做出明确的诊断,为家庭提供遗传咨询。
The purpose of this study is to analyze the clinical characteristics of a Treacher Collins syndrome (TCS) patient carrying a de novo variant of TCOF1, and briefly analyze the correlation between genetic results and clinical features. Also, the pathogenesis and clinical treatment of TCS are reviewed.
A Chinese pedigree with TCS containing 8 members was enrolled. Phenotype of the proband was evaluated by a surgeon, then whole exome sequencing of the proband was performed. Then we verified the proband-derived variants by Sanger sequencing in the pedigree. Correlation between genotype and phenotype was analyzed.
The study was conducted in a stomatological hospital.
A Chinese pedigree with TCS containing 8 members.
To ascertain the genetic variants in the Chinese pedigree with TCS.
Blood samples were collected.
We reported a
case of typical TCS with a de novo missense variant (NM_001371623.1:c.38T>G, p.(Leu13Arg)) in exon 1 of TCOF1, who presented asymmetrical facial abnormalities, including downward slanting of the palpebral fissures, sparse eyebrows, lateral tilt of the eyeballs, bilateral external ears deformities, hypoplasia of midface, reduction of the zygomatic body, bilateral orbital invagination, right external auditory canal atresia, mandibular ramus short deformity, cleft palate and the whole face was convex.
This research found a novel variant of TCS in Chinese, expanding the spectrum of TCS pathogenic variants. Genetic results combined with clinical phenotype can make a definite diagnosis and provide genetic counseling for the family.