AUTHOR=Vasquez-Forero Diana Marcela , Masotto Barbara , Ferrer-Avargues Rosario , Moya Christian Martin , Pachajoa Harry TITLE=Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome JOURNAL=Frontiers in Genetics VOLUME=14 YEAR=2023 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1183362 DOI=10.3389/fgene.2023.1183362 ISSN=1664-8021 ABSTRACT=

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.