Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome

Frontiers in Genetics

Genetics

Diana Marcela Vasquez-Forero¹  Harry Pachajoa²  Barbara Masotto³  Rosario Ferrer-Avargues³  Christian Martin Moya³ 

[1] Facultad de ciencia de la salud, Universidad Icesi, Cali, Colombia;Departamento de Genética, Fundacion Valle del Lili, Cali, Colombia;Facultad de ciencia de la salud, Universidad Icesi, Cali, Colombia;Departamento de Genética, Fundacion Valle del Lili, Cali, Colombia;Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras Universidad Icesi, Cali, Colombia;Medical Genetics Unit, Sistemas Genómicos, Paterna, Spain;

关键词: SON;    Zhu–Tokita–Takenouchi–Kim syndrome;    ZTTK syndrome;    rare disease;    Colombia;   

DOI  :  10.3389/fgene.2023.1183362

 received in 2023-03-10, accepted in 2023-04-12,  发布年份 2023

来源: Frontiers

【 摘 要 】

Zhu–Tokita–Takenouchi–Kim syndrome is a multisystem disorder resulting from haploinsufficiency in the SON gene, which is characterized by developmental delay/intellectual disability, seizures, facial dysmorphism, short stature, and congenital malformations, primarily in the central nervous system, along with ophthalmic, dental, pulmonary, cardiologic, renal, gastrointestinal, and musculoskeletal anomalies. In this study, we describe the first Colombian patient with ZTT harboring a novel mutation that has not been previously reported and review the clinical and molecular features of previously reported patients in the literature.

【 授权许可】

Unknown   
Copyright © 2023 Vasquez-Forero, Masotto, Ferrer-Avargues, Moya and Pachajoa.