Case Report
JBCGenetics. 2018; 1(2): 98-101

ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy

Authors: Sadia Tabassum, Ali Dhohyan Al Otaibi, Rowim Fahad Al Mutairi, Mohammed Al Mannai.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1530603908

Abstract

Introduction: Iron-Sulfur Cluster (ISC) biogenesis is a vital cellular process in the mitochondria. It is required to produce various ISC-containing proteins which are present in the nucleus, mitochondria, and cytosol. ISC proteins are responsible for essential functions such as glycine cleavage and the formation of lipoic acid. ISCA2 encodes an A-type ISC protein involved in the assembly of mitochondrial iron-sulfur cluster (4Fe- 4S) which is important for electron transfer and mitochondrial function. ISCA2 related Mitochondrial Disorder (IRMD) is a severe disorder of systemic energy metabolism, characterized by weakness, respiratory failure, lack of neurological development, lactic acidosis, hyperglycinemia and early death. ISCA2 gene is located on Chromosome 14q24.3 and has autosomal recessive inheritance. Objective: In this report, we present the clinical and radiological features a subject homozygous for the common founder pathogenic variant; c.229G>A; p.Gly77Ser. Conclusion: IRMD presents with infantile onset triad of progressive neurodevelopmental regression, nystagmus and optic atrophy. It is a rapidly progressive condition with death usually in first two years of life. It should be considered in infantile onset leukodystrophy. Future studies are needed to understand the role of ISCA2 gene, the effect of its mutation, and any targets for future treatment strategies.

Keywords:   Neurodegenerative, Infantile leukodystrophy, Mitochondrial disorder, respiratory chain


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ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy


Authors
Sadia Tabassum
NNI, King Fahad Medical City, Riyadh
PubMed articlesGoogle scholar articles

Ali Dhohyan Al Otaibi
NNI, King Fahad Medical City, Riyadh
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Rowim Fahad Al Mutairi
NNI, King Fahad Medical City, Riyadh
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Mohammed Al Mannai
Children Hospital, King Fahad Medical City, Riyadh
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Correspondence to:
Sadia Tabassum. Sadia Tabassum, NNI, King Fahad Medical City, Riyadh; stabassum@kfmc.med.sa

Publication history
Published online 01 Jan 1970
Received 03 Jul 2018
Revised 27 Aug 2018
Accepted 28 Aug 2018
Published in print 09 Mar 2019

How to cite this article

Pubmed Style

Tabassum S, Otaibi ADA, Mutairi RFA, Mannai MA. ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy. JBCGenetics. 2018; 1(2): 98-101. doi:10.24911/JBCGenetics/183-1530603908


Web Style

Tabassum S, Otaibi ADA, Mutairi RFA, Mannai MA. ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy. https://www.jbcgenetics.com//?mno=302642721 [Access: August 23, 2019]. doi:10.24911/JBCGenetics/183-1530603908


AMA (American Medical Association) Style

Tabassum S, Otaibi ADA, Mutairi RFA, Mannai MA. ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy. JBCGenetics. 2018; 1(2): 98-101. doi:10.24911/JBCGenetics/183-1530603908


Vancouver/ICMJE Style

Tabassum S, Otaibi ADA, Mutairi RFA, Mannai MA. ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy. JBCGenetics. (2018), [cited August 23, 2019]; 1(2): 98-101. doi:10.24911/JBCGenetics/183-1530603908


Harvard Style

Tabassum, S., Otaibi, . A. D. A., Mutairi, . R. F. A. & Mannai, . M. A. (2018) ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy. JBCGenetics, 1 (2), 98-101. doi:10.24911/JBCGenetics/183-1530603908


Turabian Style

Tabassum, Sadia, Ali Dhohyan Al Otaibi, Rowim Fahad Al Mutairi, and Mohammed Al Mannai. 2018. ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy. Journal of Biochemical and Clinical Genetics, 1 (2), 98-101. doi:10.24911/JBCGenetics/183-1530603908


Chicago Style

Tabassum, Sadia, Ali Dhohyan Al Otaibi, Rowim Fahad Al Mutairi, and Mohammed Al Mannai. "ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy." Journal of Biochemical and Clinical Genetics 1 (2018), 98-101. doi:10.24911/JBCGenetics/183-1530603908


MLA (The Modern Language Association) Style

Tabassum, Sadia, Ali Dhohyan Al Otaibi, Rowim Fahad Al Mutairi, and Mohammed Al Mannai. "ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy." Journal of Biochemical and Clinical Genetics 1.2 (2018), 98-101. Print. doi:10.24911/JBCGenetics/183-1530603908


APA (American Psychological Association) Style

Tabassum, S., Otaibi, . A. D. A., Mutairi, . R. F. A. & Mannai, . M. A. (2018) ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy. Journal of Biochemical and Clinical Genetics, 1 (2), 98-101. doi:10.24911/JBCGenetics/183-1530603908


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