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Article

Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders.

Clinical genetics - 1 May 2023

Bryen Samantha J, Zhang Katharine, Dziaduch Gregory, Bommireddipalli Shobhana, Naseri Take, Reupena Muagututi'a Sefuiva, Viali Satupa'itea, Minster Ryan L, Waddell Leigh B, Charlton Amanda, O'Grady Gina L, Evesson Frances J, Cooper Sandra T

Abstract excerpt

EMC1 encodes subunit 1 of the endoplasmic reticulum (ER) membrane protein complex (EMC), a transmembrane domain insertase involved in membrane protein biosynthesis. Variants in EMC1 are described as a cause of global developmental delay, hypotonia, cortical visual impairment, and commonly, cerebral atrophy on MRI scan. We report an individual with severe global developmental delay and progressive cerebellar...

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PMID: 36799557
DOI: 10.1111/cge.14311
PMCID: PMC10101692

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