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

Aisha M. AlShamsi; Qudsia R. Shaukat; Mohammed H. AlKuwaiti

doi:10.24911/JBCGenetics/183-1602852756

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Online Published: 04 Jan 2021

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

doi: 10.24911/JBCGenetics/183-1602852756

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

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

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.

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

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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: November 14, 2024]. 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 November 14, 2024]; 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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