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    EMC10 Homozygous Variant Identified in a Family with Global Developmental Delay, Mild Intellectual Disability, and Speech Delay.

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    Type
    Article
    Authors
    Umair, Muhammad cc
    Ballow, Mariam
    Asiri, Abdulaziz
    Alyafee, Yusra
    Al Tuwaijri, Abeer
    Alhamoudi, Kheloud M
    Aloraini, Taghrid
    Abdelhakim, Marwa
    Althagafi, Azza Th. cc
    Kafkas, Senay
    Alsubaie, Lamia
    Alrifai, Muhammad Talal
    Hoehndorf, Robert cc
    Alfares, Ahmed cc
    Alfadhel, Majid cc
    KAUST Department
    Bio-Ontology Research Group (BORG)
    Computational Bioscience Research Center (CBRC)
    Computer Science Program
    Computer, Electrical and Mathematical Sciences & Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology
    Computer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division
    Date
    2020-09-15
    Online Publication Date
    2020-09-15
    Print Publication Date
    2020-12
    Embargo End Date
    2021-09-02
    Submitted Date
    2020-07-15
    Permanent link to this record
    http://hdl.handle.net/10754/665018
    
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    Show full item 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. This article is protected by copyright. All rights reserved.
    Citation
    Umair, M., Ballow, M., Asiri, A., Alyafee, Y., Al Tuwaijri, A., Alhamoudi, K. M., … Alfadhel, M. (2020). EMC10 Homozygous Variant Identified in a Family with Global Developmental Delay, Mild Intellectual Disability, and Speech Delay. Clinical Genetics. doi:10.1111/cge.13842
    Sponsors
    We would like to thank the patient and his family for their support.
    Publisher
    Wiley
    Journal
    Clinical genetics
    DOI
    10.1111/cge.13842
    PubMed ID
    32869858
    Additional Links
    https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13842
    ae974a485f413a2113503eed53cd6c53
    10.1111/cge.13842
    Scopus Count
    Collections
    Articles; Bio-Ontology Research Group (BORG); Computer Science Program; Computational Bioscience Research Center (CBRC); Computer, Electrical and Mathematical Science and Engineering (CEMSE) Division

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