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
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...
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| Format: | Article |
| Language: | English |
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Discover STM Publishing Ltd
2021-06-01
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| Series: | Journal of Biochemical and Clinical Genetics |
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| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=14807 |
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| author | Aisha M. AlShamsi Qudsia R. Shaukat Mohammed H. AlKuwaiti |
| author_facet | Aisha M. AlShamsi Qudsia R. Shaukat Mohammed H. AlKuwaiti |
| author_sort | Aisha M. AlShamsi |
| collection | DOAJ |
| description | 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. [JBCGenetics 2021; 4(1.000): 56-63] |
| first_indexed | 2024-03-13T08:40:54Z |
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| id | doaj.art-3afd834b7382420b97c0e9d66a61d246 |
| institution | Directory Open Access Journal |
| issn | 1658-807X |
| language | English |
| last_indexed | 2024-03-13T08:40:54Z |
| publishDate | 2021-06-01 |
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| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj.art-3afd834b7382420b97c0e9d66a61d2462023-05-30T11:50:19ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X2021-06-0141566310.24911/JBCGenetics/183-160285275614807Congenital myasthenic syndrome type 23 caused by a missense homozygous c.205G>T (p.Asp69Tyr) in SLC25A1 gene in four Emirati patients from a single familyAisha M. AlShamsi0Qudsia R. Shaukat1Mohammed H. AlKuwaiti2Tawam Hospital, Al Ain, United Arab Emirates Tawam Hospital, Al Ain, United Arab Emirates Tawam Hospital, Al Ain, United Arab EmiratesBackground: 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. [JBCGenetics 2021; 4(1.000): 56-63]http://www.ejmanager.com/fulltextpdf.php?mno=14807congenital myasthenic syndrome type 23slc25a1 genewhole-exome sequencing |
| spellingShingle | Aisha M. AlShamsi Qudsia R. Shaukat 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 congenital myasthenic syndrome type 23 slc25a1 gene whole-exome sequencing |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | congenital myasthenic syndrome type 23 caused by a missense homozygous c 205g gt t p asp69tyr in slc25a1 gene in four emirati patients from a single family |
| topic | congenital myasthenic syndrome type 23 slc25a1 gene whole-exome sequencing |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=14807 |
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