ArticleClinical genetics2020
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.
Article in Clinical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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23 citing papers in PubMed, 40 citations in OpenAlex.
- Structural basis of an endoplasmic reticulum EMC:Spf1 insertase-dislocase complex.Nature structural & molecular biology · 2026Article
- Structural dynamics and stability analysis of a novel ARSK variant confirms its role in MPS type X pathogenesis.Glycoconjugate journal · 2026Article
- Roles of ER Membrane Protein Complex in Protein Biogenesis and Quality Control in the Lung and Beyond.Cell proliferation · 2026Review
- A Novel Homozygous Loss-of-Function Variant in GPR156 Delineates Non-syndromic Hearing Loss.Biochemical genetics · 2026Article
- Article
- The Endoplasmic Reticulum Membrane Protein Complex Is Important for Deoxynivalenol Production and the Virulence ofJournal of fungi (Basel, Switzerland) · 2025Article
- Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome).Genetics and molecular biology · 2025Article
- The genetic cause of neurodevelopmental disorders in 30 consanguineous families.Frontiers in medicine · 2024Article
- Exome sequencing in retinal dystrophy patients reveals a novel candidate gene ER membrane protein complex subunit 3.Heliyon · 2023Article
- Expanding EMC foldopathies: Topogenesis deficits alter the neural crest.Genesis (New York, N.Y. : 2000) · 2023Article
- Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorder.Frontiers in genetics · 2023Article
- Secreted EMC10 is upregulated in human obesity and its neutralizing antibody prevents diet-induced obesity in mice.Nature communications · 2022Article
- De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.Human molecular genetics · 2022Article
- Membrane-Bound EMC10 Is Required for Sperm Motility via Maintaining the Homeostasis of Cytoplasm Sodium in Sperm.International journal of molecular sciences · 2022Article
- Biallelic loss of EMC10 leads to mild to severe intellectual disability.Annals of clinical and translational neurology · 2022Article
- Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach.Frontiers in genetics · 2022Article
- Article
- Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability.Frontiers in genetics · 2022Article
- Article
- Identification of theMolecular syndromology · 2021Article
Corrections and comments
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Authors and funding
15 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In recent years, several genes have been implicated in the variable disease presentation of global developmental delay (GDD) and intellectual disability (ID). The endoplasmic reticulum membrane protein complex (EMC) family is known to be involved in GDD and ID. Homozygous variants of EMC1 are associated with GDD, scoliosis, and cerebellar atrophy, indicating the relevance of this pathway for neurogenetic disorders. EMC10 is a bone marrow-derived angiogenic growth factor that plays an important role in infarct vascularization and promoting tissue repair. However, this gene has not been previously associated with human disease. Herein, we describe a Saudi family with two individuals segregating a recessive neurodevelopmental disorder. Both of the affected individuals showed mild ID, speech delay, and GDD. Whole-exome sequencing (WES) and Sanger sequencing were performed to identify candidate genes. Further, to elucidate the functional effects of the variant, quantitative real-time PCR (RT-qPCR)-based expression analysis was performed. WES revealed a homozygous splice acceptor site variant (c.679-1G>A) in EMC10 (chromosome 19q13.33) that segregated perfectly within the family. RT-qPCR showed a substantial decrease in the relative EMC10 gene expression in the patients, indicating the pathogenicity of the identified variant. For the first time in the literature, the EMC10 gene variant was associated with mild ID, speech delay, and GDD. Thus, this gene plays a key role in developmental milestones, with the potential to cause neurodevelopmental disorders in humans.
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