Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoencephalopathy
Background: Infantile onset progressive leukoencephalopathy with or without deafness is an autosomal recessive neurodegenerative disorder with variable clinical presentation, manifesting in infancy or early childhood. This disorders is one of KARS1 gene mutation spectrum that results mostly from com...
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Discover STM Publishing Ltd
2023-02-01
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| Series: | Journal of Biochemical and Clinical Genetics |
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| Online Access: | https://www.jbcgenetics.com/?mno=175389 |
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| author | Najla Binsabbar Sadia Tabassum |
| author_facet | Najla Binsabbar Sadia Tabassum |
| author_sort | Najla Binsabbar |
| collection | DOAJ |
| description | Background: Infantile onset progressive leukoencephalopathy with or without deafness is an autosomal recessive neurodegenerative disorder with variable clinical presentation, manifesting in infancy or early childhood. This disorders is one of KARS1 gene mutation spectrum that results mostly from compound heterozygous mutations rather than homozygous mutations, resulting in a dysfunctional mitochondrial enzyme.
Case presentation: We report our 4-year-old Saudi boy of non-consanguineous parents, with a compound heterozygous mutation in KARS1 gene presenting clinically with speech delay, bilateral sensonural hearing loss, unilateral progressive hemiparesis, iron deficiency anemia and lytic bone lesions.
Conclusion: KARS1 mutation has a heterogenous phenotypic presentation, and variable clinical severity. We report a new clinical feature of lytic bone lesions which could potentially expand the phenotype of this genetic disorder spectrum. Early recognition of the clinical presentation is warranted to facilitate diagnosis, prognosis and appropriate family counseling. [JBCGenetics 2023; 6(2.000): 129-132] |
| format | Article |
| id | doaj-art-10cbabbda856450eaf6f51538cc066ff |
| institution | Kabale University |
| issn | 1658-807X 1658-8088 |
| language | English |
| publishDate | 2023-02-01 |
| publisher | Discover STM Publishing Ltd |
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| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj-art-10cbabbda856450eaf6f51538cc066ff2025-08-20T03:42:18ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X1658-80882023-02-016212913210.24911/JBCGenetics/183-1698921213175389Undiscovered Phenotype of KARS1 Related Mitochondrial LeukoencephalopathyNajla Binsabbar0Sadia Tabassum1Division of Pediatric Neurology, Department of Pediatrics, King Abdullah Specialist Children's Hospital, National Guard Health Affairs, Riyadh, Saudi Arabia National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.Background: Infantile onset progressive leukoencephalopathy with or without deafness is an autosomal recessive neurodegenerative disorder with variable clinical presentation, manifesting in infancy or early childhood. This disorders is one of KARS1 gene mutation spectrum that results mostly from compound heterozygous mutations rather than homozygous mutations, resulting in a dysfunctional mitochondrial enzyme. Case presentation: We report our 4-year-old Saudi boy of non-consanguineous parents, with a compound heterozygous mutation in KARS1 gene presenting clinically with speech delay, bilateral sensonural hearing loss, unilateral progressive hemiparesis, iron deficiency anemia and lytic bone lesions. Conclusion: KARS1 mutation has a heterogenous phenotypic presentation, and variable clinical severity. We report a new clinical feature of lytic bone lesions which could potentially expand the phenotype of this genetic disorder spectrum. Early recognition of the clinical presentation is warranted to facilitate diagnosis, prognosis and appropriate family counseling. [JBCGenetics 2023; 6(2.000): 129-132]https://www.jbcgenetics.com/?mno=175389kars1leukoencephalopathydevelopmental delayhemiplegiadeafnesslytic bone lesions |
| spellingShingle | Najla Binsabbar Sadia Tabassum Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoencephalopathy Journal of Biochemical and Clinical Genetics kars1 leukoencephalopathy developmental delay hemiplegia deafness lytic bone lesions |
| title | Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoencephalopathy |
| title_full | Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoencephalopathy |
| title_fullStr | Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoencephalopathy |
| title_full_unstemmed | Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoencephalopathy |
| title_short | Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoencephalopathy |
| title_sort | undiscovered phenotype of kars1 related mitochondrial leukoencephalopathy |
| topic | kars1 leukoencephalopathy developmental delay hemiplegia deafness lytic bone lesions |
| url | https://www.jbcgenetics.com/?mno=175389 |
| work_keys_str_mv | AT najlabinsabbar undiscoveredphenotypeofkars1relatedmitochondrialleukoencephalopathy AT sadiatabassum undiscoveredphenotypeofkars1relatedmitochondrialleukoencephalopathy |