A novel frameshift variant in SON causes Zhu-Tokita-Takenouchi-Kim Syndrome.

ABSTRACT:

Background

Zhu-Tokita-Takenouchi-Kim syndrome is a severe multisystem developmental disorder characterized by intellectual disability, developmental delay, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal abnormalities, and congenital malformations. This syndrome is caused by heterozygous pathogenic variants in the SON gene at chromosome 21q22.1.

Objectives

The aim of this study was to investigate the pathogenesis of a 4-year-old Chinese child who displayed severe intellectual disability, delayed psychomotor development, and facial dysmorphism.

Methods

A sequential detection including chromosome karyotyping, chromosome microarray analysis (CMA), and whole-exome sequencing (WES) was performed on this child. The familial verification of W

SUBMITTER: Tan Y 

PROVIDER: S-EPMC7439338 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature