Original Article
JBCGenetics. 2021; 4(2): 93-99

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.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1603863426

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


© Copyright: Author(s)

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


Authors
Abdul Ali Peer-Zada
Pathology and Clinical Laboratory Medicine Administration, Section of Molecular Pathology, King Fahad Medical City, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Osama A Obaid
Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Manar A Samman
Pathology and Clinical Laboratory Medicine Administration, Section of Molecular Pathology, King Fahad Medical City, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Aqeela AlHashim
Pediatric Neurology, King Fahad Medical City, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Hajar AlAsmari
Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Ali M AlAsmari
Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
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Correspondence to:
. Ali M AlAsmari, Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; aalasmari@kfmc.med.sa

Publication history
Received 28 Oct 2020
Revised 11 Mar 2021
Accepted 08 Apr 2021
Published online 18 May 2021
Published in print 28 Aug 2021

How to cite this article

Pubmed Style

Peer-Zada AA, Obaid OA, Samman MA, AlHashim A, AlAsmari H, AlAsmari AM. Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing. JBCGenetics. 2021; 4(2): 93-99. doi:10.24911/JBCGenetics/183-1603863426


Web Style

Peer-Zada AA, Obaid OA, Samman MA, AlHashim A, AlAsmari H, AlAsmari AM. Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing. https://www.jbcgenetics.com//?mno=22311 [Access: October 22, 2021]. doi:10.24911/JBCGenetics/183-1603863426


AMA (American Medical Association) Style

Peer-Zada AA, Obaid OA, Samman MA, AlHashim A, AlAsmari H, AlAsmari AM. Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing. JBCGenetics. 2021; 4(2): 93-99. doi:10.24911/JBCGenetics/183-1603863426


Vancouver/ICMJE Style

Peer-Zada AA, Obaid OA, Samman MA, AlHashim A, AlAsmari H, AlAsmari AM. Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing. JBCGenetics. (2021), [cited October 22, 2021]; 4(2): 93-99. doi:10.24911/JBCGenetics/183-1603863426


Harvard Style

Peer-Zada, A. A., Obaid, . O. A., Samman, . M. A., AlHashim, . A., AlAsmari, . H. & AlAsmari, . A. M. (2021) Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing. JBCGenetics, 4 (2), 93-99. doi:10.24911/JBCGenetics/183-1603863426


Turabian Style

Peer-Zada, Abdul Ali, Osama A. Obaid, Manar A. Samman, Aqeela AlHashim, Hajar AlAsmari, and Ali M. AlAsmari. 2021. Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing. Journal of Biochemical and Clinical Genetics, 4 (2), 93-99. doi:10.24911/JBCGenetics/183-1603863426


Chicago Style

Peer-Zada, Abdul Ali, Osama A. Obaid, Manar A. Samman, Aqeela AlHashim, Hajar AlAsmari, and Ali M. AlAsmari. "Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing." Journal of Biochemical and Clinical Genetics 4 (2021), 93-99. doi:10.24911/JBCGenetics/183-1603863426


MLA (The Modern Language Association) Style

Peer-Zada, Abdul Ali, Osama A. Obaid, Manar A. Samman, Aqeela AlHashim, Hajar AlAsmari, and Ali M. AlAsmari. "Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing." Journal of Biochemical and Clinical Genetics 4.2 (2021), 93-99. Print. doi:10.24911/JBCGenetics/183-1603863426


APA (American Psychological Association) Style

Peer-Zada, A. A., Obaid, . O. A., Samman, . M. A., AlHashim, . A., AlAsmari, . H. & AlAsmari, . A. M. (2021) Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing. Journal of Biochemical and Clinical Genetics, 4 (2), 93-99. doi:10.24911/JBCGenetics/183-1603863426


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