MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.

ABSTRACT:

Background

Despite advances in next generation sequencing technologies, the identification of variants of uncertain significance (VUS) can often hinder definitive diagnosis in patients with complex neurodevelopmental disorders.

Objective

The objective of this study was to identify and characterize the underlying cause of disease in a family with two children with severe developmental delay associated with generalized dystonia and episodic status dystonicus, chorea, epilepsy, and cataracts.

Methods

Candidate genes identified by autozygosity mapping and whole-exome sequencing were characterized using cellular and vertebrate model systems.

Results

Homozygous variants were found in three candidate genes: MED27, SLC6A7, and MPPE1. Although the patients had features

SUBMITTER: Reid KM 

PROVIDER: S-EPMC9796674 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature