Case Report
JBCGenetics. 2021; 4(1): 56-63

Congenital myasthenic syndrome type 23 caused by a missense homozygous c.205G>T (p.Asp69Tyr) in SLC25A1 gene in four Emirati patients from a single family

Authors: Aisha M. AlShamsi, Qudsia R. Shaukat, Mohammed H. AlKuwaiti.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1602852756

Abstract

Background: Congenital myasthenic syndromes (CMSs) are a clinically and genetically heterogeneous group of disorders caused by mutations that lead to altered neuromuscular junction transmissions. Recently, the solute carrier family 25 member 1 (SLC25A1) gene was described to cause CMS type 23. This gene encodes a mitochondrial citrate carrier, associated mainly with a severe neurometabolic disease like combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA). Case presentation: Here, we report four Emirati patients with a homozygous missense variant in SLC25A1 with a phenotype restricted to relatively mild CMS. We performed whole-exome sequencing (WES) in two relatives who presented with CMS to identify the underlying causative gene. Conclusion: The WES analysis revealed the presence of a homozygous c.205G>T (p.Asp69Tyr) [(c.226G>T (p.Asp76Tyr)] in the SLC25A1 gene; the same variant was identified in the other members in this family with the same phenotype. This suggests that c.205G>T (p.Asp69Tyr) [(c.226G>T p.(Asp76Tyr)] is associated with a relatively mild CMS phenotype and can be considered as a founder mutation in our region.

Keywords:   Congenital myasthenic syndrome type 23, SLC25A1 gene, whole-exome sequencing


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Congenital myasthenic syndrome type 23 caused by a missense homozygous c.205G>T (p.Asp69Tyr) in SLC25A1 gene in four Emirati patients from a single family


Authors
Aisha M AlShamsi
Tawam Hospital, Al Ain, United Arab Emirates
PubMed articlesGoogle scholar articles

Qudsia R Shaukat
Tawam Hospital, Al Ain, United Arab Emirates
PubMed articlesGoogle scholar articles

Mohammed H AlKuwaiti
Tawam Hospital, Al Ain, United Arab Emirates
PubMed articlesGoogle scholar articles


Correspondence to:
. Aisha M. AlShamsi, Tawam Hospital, Al Ain, United Arab Emirates.; aishamsi@seha.ae

Publication history
Received 16 Oct 2020
Revised 26 Nov 2020
Accepted 04 Dec 2020
Published online 04 Jan 2021
Published in print 20 Jan 2021

How to cite this article

Pubmed Style

AlShamsi AM, Shaukat QR, AlKuwaiti MH. Congenital myasthenic syndrome type 23 caused by a missense homozygous c.205G>T (p.Asp69Tyr) in SLC25A1 gene in four Emirati patients from a single family. JBCGenetics. 2021; 4(1): 56-63. doi:10.24911/JBCGenetics/183-1602852756


Web Style

AlShamsi AM, Shaukat QR, AlKuwaiti MH. Congenital myasthenic syndrome type 23 caused by a missense homozygous c.205G>T (p.Asp69Tyr) in SLC25A1 gene in four Emirati patients from a single family. https://www.jbcgenetics.com//?mno=14807 [Access: May 14, 2021]. doi:10.24911/JBCGenetics/183-1602852756


AMA (American Medical Association) Style

AlShamsi AM, Shaukat QR, AlKuwaiti MH. Congenital myasthenic syndrome type 23 caused by a missense homozygous c.205G>T (p.Asp69Tyr) in SLC25A1 gene in four Emirati patients from a single family. JBCGenetics. 2021; 4(1): 56-63. doi:10.24911/JBCGenetics/183-1602852756


Vancouver/ICMJE Style

AlShamsi AM, Shaukat QR, AlKuwaiti MH. Congenital myasthenic syndrome type 23 caused by a missense homozygous c.205G>T (p.Asp69Tyr) in SLC25A1 gene in four Emirati patients from a single family. JBCGenetics. (2021), [cited May 14, 2021]; 4(1): 56-63. doi:10.24911/JBCGenetics/183-1602852756


Harvard Style

AlShamsi, A. M., Shaukat, . Q. R. & AlKuwaiti, . M. H. (2021) Congenital myasthenic syndrome type 23 caused by a missense homozygous c.205G>T (p.Asp69Tyr) in SLC25A1 gene in four Emirati patients from a single family. JBCGenetics, 4 (1), 56-63. doi:10.24911/JBCGenetics/183-1602852756


Turabian Style

AlShamsi, Aisha M., Qudsia R. Shaukat, and Mohammed H. AlKuwaiti. 2021. Congenital myasthenic syndrome type 23 caused by a missense homozygous c.205G>T (p.Asp69Tyr) in SLC25A1 gene in four Emirati patients from a single family. Journal of Biochemical and Clinical Genetics, 4 (1), 56-63. doi:10.24911/JBCGenetics/183-1602852756


Chicago Style

AlShamsi, Aisha M., Qudsia R. Shaukat, and Mohammed H. AlKuwaiti. "Congenital myasthenic syndrome type 23 caused by a missense homozygous c.205G>T (p.Asp69Tyr) in SLC25A1 gene in four Emirati patients from a single family." Journal of Biochemical and Clinical Genetics 4 (2021), 56-63. doi:10.24911/JBCGenetics/183-1602852756


MLA (The Modern Language Association) Style

AlShamsi, Aisha M., Qudsia R. Shaukat, and Mohammed H. AlKuwaiti. "Congenital myasthenic syndrome type 23 caused by a missense homozygous c.205G>T (p.Asp69Tyr) in SLC25A1 gene in four Emirati patients from a single family." Journal of Biochemical and Clinical Genetics 4.1 (2021), 56-63. Print. doi:10.24911/JBCGenetics/183-1602852756


APA (American Psychological Association) Style

AlShamsi, A. M., Shaukat, . Q. R. & AlKuwaiti, . M. H. (2021) Congenital myasthenic syndrome type 23 caused by a missense homozygous c.205G>T (p.Asp69Tyr) in SLC25A1 gene in four Emirati patients from a single family. Journal of Biochemical and Clinical Genetics, 4 (1), 56-63. doi:10.24911/JBCGenetics/183-1602852756


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