Sun S P, Zuo B, He W L, Wang H J, Xu H E, Lu W
Department of Otorhinolaryngology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Precision Medicine Center, Academy of Medical Science, Zhengzhou University, Zhengzhou 450052, China.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Sep 7;59(9):934-940. doi: 10.3760/cma.j.cn115330-20231013-00144.
To investigate the clinical features, molecular etiology, and treatment of a family with Treacher Collins Syndrome 2 (TCS2). Information of the proband (female, 8 years old) including medical history and family history was collected. Physical examination and examinations concerning laboratory, audiology, and radiology were performed on the proband. Physical examination was also performed on the family members. Genomic DNA of proband was extracted for whole exome sequencing, and then the genomic DNA of family members was extracted for Sanger sequencing. and TCS2 related literatures published before August 31,2023 were searched and sifted in PubMed and CKNI databases. The clinical characteristics of TCS2 were summarized. The proband had poor hearing since childhood, with pure tone audiometry indicating conductive hearing loss. She had a smaller jaw, bilateral preauricular fistulas and cup-shaped ear deformities. Temporal bone CT scan revealed deformities in the left external ear canal, bilateral middle ear and inner ear. A bone-conduction hearing aid device was surgically implanted, resulting in restoration of almost normal hearing levels. The proband's mother also had a slightly smaller jaw. Genetic analysis revealed a novel heterozygous variant NM_015972.4:c.38_47del in the gene in the proband, which was inherited from her mother. A review of the literature revealed no clear evidence of genotype-phenotype correlation in TCS2. Molecular diagnosis plays a vital role in the diagnosis of TCS2. Patients with normal facial phenotype may be carriers of pathogenic variants in the gene and have the risk of passing it to the offsprings with complete penetrance. Proper bone conductive hearing devices can improve the quality of life of TCS2 patients.
研究一个患有2型特雷彻·柯林斯综合征（TCS2）的家系的临床特征、分子病因及治疗情况。收集了先证者（8岁女性）的病史和家族史等信息。对先证者进行了体格检查以及实验室、听力学和放射学检查。也对家族成员进行了体格检查。提取先证者的基因组DNA进行全外显子组测序，然后提取家族成员的基因组DNA进行桑格测序。并在PubMed和中国知网数据库中检索并筛选了2023年8月31日前发表的与TCS2相关的文献。总结了TCS2的临床特征。先证者自幼听力差，纯音听力测定显示为传导性听力损失。她下颌较小，双侧耳前瘘管和杯状耳畸形。颞骨CT扫描显示左侧外耳道、双侧中耳和内耳畸形。手术植入了骨传导助听器，听力恢复到几乎正常水平。先证者的母亲下颌也略小。基因分析发现先证者基因中有一个新的杂合变异NM_015972.4:c.38_47del，该变异遗传自她的母亲。文献综述显示，TCS2中基因型与表型的相关性尚无明确证据。分子诊断在TCS2的诊断中起着至关重要的作用。面部表型正常的患者可能是该基因致病变异的携带者，并有将其完全外显地传给后代的风险。合适的骨传导听力装置可以提高TCS患者的生活质量。
