Case report: Second report of neuromuscular syndrome caused by biallelic variants in ASCC3.

ABSTRACT:

Introduction

Activating Signal Cointegrator 1 Complex, Subunit 3 (ASCC3) has been implicated in the pathogenesis of neurodevelopmental disorders and neuromuscular diseases (MIM: 620700). This paper analyzes the clinical manifestations of three patients with developmental delay caused by ASCC3 genetic variation. Additionally, we discuss the previously reported clinical features of these patients along with our own findings, thereby enhancing our understanding of these genetic disorders and providing valuable insights into diagnosis, treatment, and potential interventions for affected individuals.

Methods

In this study, we utilized trio-whole-exome sequencing (Trio-WES) and trio-copy number variations sequencing (Trio-CNV-seq) to analyze three unique families dia

SUBMITTER: Li W 

PROVIDER: S-EPMC11402803 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature