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Article

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

Journal of human genetics - 1 Jul 2017

Shukla Anju, Hebbar Malavika, Srivastava Anshika, Kadavigere Rajagopal, Upadhyai Priyanka, Kanthi Anil, Brandau Oliver, Bielas Stephanie, Girisha Katta M

Abstract excerpt

The iron-sulfur (Fe-S) cluster (ISC) biogenesis pathway is indispensable for many fundamental biological processes and pathogenic variations in genes encoding several components of the Fe-S biogenesis machinery, such as NFU1, BOLA3, IBA57 and ISCA2 are already implicated in causing four types of multiple mitochondrial dysfunctions syndromes (MMDS). We report on two unrelated families, with two affected children...

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Source

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Identifiers

PMID: 28356563
DOI: 10.1038/jhg.2017.35
PMCID: PMC5484744

Genes

ISCA1
BOLA3
IBA57
ISCA2
NFU1

Variants

Provenance

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Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.PMID 28356563Read ↗

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