Cadena-Ullauri Santiago, Tamayo-Trujillo Rafael, Paz-Cruz Elius, Guevara-Ramírez Patricia, Ruiz-Pozo Viviana A, Cuenca Fernando Agama, Zambrano Ana Karina
Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador.
Unidad de Neonatología, Hospital General Enrique Garcés, Quito, Ecuador.
Sci Prog. 2025 Apr-Jun;108(2):368504251338915. doi: 10.1177/00368504251338915. Epub 2025 May 20.
Treacher Collins Syndrome (TCS) is a congenital disorder characterized by craniofacial malformations. In this case, a novel likely pathogenic nonsense variant, in the gene, associated with TCS, was reported. Genetic analysis was performed on an Ecuadorian participant (Subject A) and his mother (Subject B), both of whom exhibited characteristic features of TCS. Next-generation sequencing (NGS) identified a single nucleotide variant (c.4423A > T) in exon 25 of the gene, resulting in a premature stop codon (p.(Lys1475Ter)) and a truncated treacle protein. The likely pathogenic variant presented in Subjects A and B could alter critical functions of the protein, contributing to the craniofacial malformations of the subjects. The variant informed in this case report contributes to the knowledge of gene variants associated with TCS and highlights the importance of genomic screening for accurate diagnosis and improved clinical management in patients and families.
特雷彻·柯林斯综合征（TCS）是一种以颅面畸形为特征的先天性疾病。在本病例中，报告了一个与TCS相关的基因中的一种新的可能致病的无义变异。对一名厄瓜多尔参与者（受试者A）及其母亲（受试者B）进行了基因分析，两人均表现出TCS的特征。二代测序（NGS）在该基因的第25外显子中鉴定出一个单核苷酸变异（c.4423A>T），导致提前终止密码子（p.(Lys1475Ter)）和截短的treacle蛋白。受试者A和B中出现的这种可能致病的变异可能会改变该蛋白的关键功能，导致受试者出现颅面畸形。本病例报告中通报的变异有助于了解与TCS相关的基因变异，并突出了基因组筛查对于患者及其家庭准确诊断和改善临床管理的重要性。
