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=Volume 14 - 2023

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 (ZTTK) syndrome is a multisystem disorder caused by haploinsufficiency in the SON gene; characterized by developmental delay/intellectual disability, seizures, facial dysmorphism, short stature, and congenital malformations mainly in the central nervous system, along with ophthalmic, dental, pulmonary, cardiologic, renal, gastrointestinal, and musculoskeletal anomalies.  Here we described the first Colombian patient with ZTTK with a novel mutation not previously reported and reviewed the clinical and molecular presentation of the patients described in the literature.