JBCGenetics |

Original Article

Volume: 4 | Issue: 2 | Published: May 18, 2021 | Pages: 93 - 99 | DOI: 10.24911/JBCGenetics/183-1603863426

Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing

Authors: Abdul Ali Peer-Zada , Osama A. Obaid , Manar A. Samman , Aqeela AlHashim , Hajar AlAsmari , Ali M. AlAsmari

Authors

Abdul Ali Peer-Zada

Pathology and Clinical Laboratory Medicine Administration, Section of Molecular Pathology, King Fahad Medical City, Riyadh, Saudi Arabia

Osama A. Obaid

Section of Medical Genetics, Children&apos;s Hospital, King Fahad Medical City, Riyadh, Saudi Arabia

Manar A. Samman

Pathology and Clinical Laboratory Medicine Administration, Section of Molecular Pathology, King Fahad Medical City, Riyadh, Saudi Arabia

Aqeela AlHashim

Pediatric Neurology, King Fahad Medical City, Riyadh, Saudi Arabia

Hajar AlAsmari

Section of Medical Genetics, Children&apos;s Hospital, King Fahad Medical City, Riyadh, Saudi Arabia

Ali M. AlAsmari

Section of Medical Genetics, Children&apos;s Hospital, King Fahad Medical City, Riyadh, Saudi Arabia

Publication History

Received: October 28, 2020

Revised: March 11, 2021

Accepted: April 08, 2021

Published: May 18, 2021

Abstract

Background: The endoplasmic reticulum membrane protein complex 1 (EMC1) gene encodes a subunit of the EMC with multiple alternatively spliced transcripts encoding different isoforms. Monoallelic and biallelic mutations of the EMC1 gene have been reported for cerebellar atrophy, visual impairment, psychomotor retardation, lipoid proteinosis of Urbach and Wiethe, and Alkuraya-Kucinskas syndrome. Objectives: Herein, we present whole exome sequencing results of eight Saudi pediatric patients with distinctive clinical features which revealed both monoallelic and biallelic variants in the EMC1 gene (CHR1 exon4:19568918, NM_001271429.2, c.364G>A; p.A122T), including two previously reported siblings (CHR1 exon21:19547328, NM_015047.3, c.2602G>A; p.G868R). Results: The patients presented with the neurological and extra-neurological clinical spectrum that included seizures, spastic diplegia, cognitive impairment, axial and appendicular hypotonia, dysmorphic features, joint hyper-flexibility, attention deficit hyperactivity disorder, skeletal dysplasia in addition to generalized global developmental delay, failure to thrive, speech delay, intellectual disability, and visual impairments. Furthermore, brain Magnetic resonance imaging findings were consistent with variable clinical features and revealed brain atrophy, thinning of corpus callosum, semi-lobar holoprosencephaly, white matter abnormality, diffuse paucity of the myelin within the brain parenchyma, and reduction of white matter arborization in the temporal lobes. Conclusion: In conclusion, these clinical cases highlight the importance of the EMC1 gene in disease phenotype and add up to the expanded EMC1-related phenotype.

Keywords: EMC1, whole exome sequencing, CAVIPMR, brain MRI, consanguinity

Pubmed Style

Abdul Ali Peer-Zada, Osama A. Obaid, Manar A. Samman, Aqeela AlHashim, Hajar AlAsmari, Ali M. AlAsmari. Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing. JBC Genetics. 2021; 18 (May 2021): 93-99. doi:10.24911/JBCGenetics/183-1603863426

Web Style

Abdul Ali Peer-Zada, Osama A. Obaid, Manar A. Samman, Aqeela AlHashim, Hajar AlAsmari, Ali M. AlAsmari. Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing. https://www.jbcgenetics.com/index.php/articles/2137 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1603863426

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Abdul Ali Peer-Zada, Osama A. Obaid, Manar A. Samman, Aqeela AlHashim, Hajar AlAsmari, Ali M. AlAsmari. Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing. JBC Genetics. (2021), [cited April 27, 2025]; 18 (May 2021): 93-99. doi:10.24911/JBCGenetics/183-1603863426

Harvard Style

Abdul Ali Peer-Zada, Osama A. Obaid, Manar A. Samman, Aqeela AlHashim, Hajar AlAsmari, Ali M. AlAsmari (2021) Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing. JBC Genetics, 18 (May 2021): 93-99. doi:10.24911/JBCGenetics/183-1603863426

Chicago Style

Abdul Ali Peer-Zada, Osama A. Obaid, Manar A. Samman, Aqeela AlHashim, Hajar AlAsmari, Ali M. AlAsmari. "Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing." 18 (2021), 93-99. doi:10.24911/JBCGenetics/183-1603863426

MLA (The Modern Language Association) Style

Abdul Ali Peer-Zada, Osama A. Obaid, Manar A. Samman, Aqeela AlHashim, Hajar AlAsmari, Ali M. AlAsmari. "Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing." 18.May 2021 (2021), 93-99. Print. doi:10.24911/JBCGenetics/183-1603863426

APA (American Psychological Association) Style

Abdul Ali Peer-Zada, Osama A. Obaid, Manar A. Samman, Aqeela AlHashim, Hajar AlAsmari, Ali M. AlAsmari (2021) Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing. , 18 (May 2021), 93-99. doi:10.24911/JBCGenetics/183-1603863426