Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1
2018 ◽
Vol 07
(03)
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pp. 130-133
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Keyword(s):
Exon 4
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AbstractIron-sulfur cluster assembly 1 (ISCA1) is one of the essential proteins operating in the mitochondrial iron-sulfur (Fe-S) cluster biogenesis pathway. We reported the variant c.259G > A [p.(Glu87Lys)] in homozygous state in exon 4 of the ISCA1 gene as the likely cause of multiple mitochondrial dysfunction syndrome 5 in a previous publication. We now report the third patient with the same phenotype and variant, further supporting the possibility of a founder event. Our observation confirms the clinical presentation associated with a probable founder variant in this condition.
2004 ◽
Vol 279
(52)
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pp. 53924-53931
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Keyword(s):
Keyword(s):
Iron–Sulfur Proteins and Iron–Sulfur Cluster Assembly in Organisms with Hydrogenosomes and Mitosomes
2007 ◽
pp. 105-133
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Keyword(s):
2008 ◽
Vol 36
(6)
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pp. 1112-1119
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