Case Report: A Novel SON Mutation in a Colombian Patient with ZTTK Syndrome

Overview

Journal Front Genet

Date 2023 Jul 21

PMID 37476413

Authors

Diana Marcela Vasquez-Forero

Barbara Masotto

Rosario Ferrer-Avargues

Christian Martin Moya

Harry Pachajoa

Affiliations

Soon will be listed here.

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.

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