De novo variants in MAST4 related to neurodevelopmental disorders with developmental delay and infantile spasms: Genotype-phenotype association.

ABSTRACT:

Objective

This study aims to prove that the de novo variants in MAST4 gene are associated with neurodevelopmental disorders (NDD) with developmental delay (DD) and infantile spasm (IS) and to determine the genotype-phenotype correlations.

Methods

Trio-based exome sequencing (ES) was performed on the four families enrolled in this study. We collected and systematically reviewed the four probands' clinical data, magnetic resonance images (MRI), and electroencephalography (EEG). We also carried out bioinformatics analysis by integrating published exome/genome sequencing data and human brain transcriptomic data.

Results

We described four patients whose median age of seizure onset was 5 months. The primary manifestation was infantile spasms with typical hypsa

SUBMITTER: Zhang X 

PROVIDER: S-EPMC9992645 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature