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Case Reports
. 2018 Sep;7(3):130-133.
doi: 10.1055/s-0038-1641177. Epub 2018 Apr 5.

Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1

Anju Shukla  1 , Parneet Kaur  1 , Katta M Girisha  1
Affiliations
Case Reports

Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1

Anju Shukla et al. J Pediatr Genet. 2018 Sep.

Abstract

Iron-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.

Keywords: ISCA1; founder effect; multiple mitochondrial dysfunctions syndrome 5.

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Conflict of interest statement

Conflict of Interest None.

Figures

Fig. 1
Fig. 1
( A ) Pedigree of the family. ( B ) T2-weighted magnetic resonance imaging of brain shows pachygyria (black arrow), dilated ventricles (white arrow), and extensive hyperintensities in cerebral deep white matter (black arrowhead). ( C ) Extensive hyperintensities were also seen in deep cerebellar nuclei (white arrowhead) on T2-weighted magnetic resonance imaging of brain. ( D ) Homozygous variant c.259G > A [p. (Glu87Lys)] was observed on targeted Sanger sequencing in patient index, parents were heterozygous carriers.
See this image and copyright information in PMC

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