J Pediatr Genet 2018; 07(03): 130-133
DOI: 10.1055/s-0038-1641177
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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

Anju Shukla
1  Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India
,
Parneet Kaur
1  Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India
,
Katta M. Girisha
1  Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India
› Author Affiliations
Further Information

Publication History

30 December 2017

28 February 2018

Publication Date:
05 April 2018 (eFirst)

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.

Supplementary Material