Novel compound heterozygous variants in EMC1 associated with global developmental delay: a lesson from a non-silent synonymous exonic mutation.

ABSTRACT:

Background

The endoplasmic reticulum-membrane protein complex (EMC) as a molecular chaperone is required for the proper synthesis, folding and traffic of several transmembrane proteins. Variants in the subunit 1 of EMC (EMC1) have been implicated in neurodevelopmental disorders.

Methods

Whole exome sequencing (WES) with Sanger sequencing validation was performed for a Chinese family, including the proband (a 4-year-old girl who displayed global developmental delay, severe hypotonia and visual impairment), her affected younger sister and her non-consanguineous parents. RT-PCR assay and Sanger sequencing were used to detect abnormal RNA splicing.

Results

Novel compound heterozygous variants in EMC1, including the maternally inherited chr1: 19566812_1956800

SUBMITTER: Wang G 

PROVIDER: S-EPMC10175691 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature