A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.

doi:10.1038/s41436-021-01097-x

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Article

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2021

Shao Diane D, Straussberg Rachel, Ahmed Hind, Khan Amjad, Tian Songhai, Hill R Sean, Smith Richard S, Majmundar Amar J, Ameziane Najim, Neil Jennifer E, Yang Edward, Al Tenaiji Amal, Jamuar Saumya S, Schlaeger Thorsten M, Al-Saffar Muna, Hovel Iris, Al-Shamsi Aisha, Basel-Salmon Lina, Amir Achiya Z, Rento Lariza M, Lim Jiin Ying, Ganesan Indra, Shril Shirlee, Evrony Gilad, Barkovich A James, Bauer Peter, Hildebrandt Friedhelm, Dong Min, Borck Guntram, Beetz Christian, Al-Gazali Lihadh, Eyaid Wafaa, Walsh Christopher A

Abstract excerpt

PURPOSE: The endoplasmic reticulum membrane complex (EMC) is a highly conserved, multifunctional 10-protein complex related to membrane protein biology. In seven families, we identified 13 individuals with highly overlapping phenotypes who harbor a single identical homozygous frameshift variant in EMC10. METHODS: Using exome, genome, and Sanger sequencing, a recurrent frameshift EMC10 variant was identified in...

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PMID: 33531666
DOI: 10.1038/s41436-021-01097-x
PMCID: PMC8187145

Genes

EMC10

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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