Amish, Mennonite, and Hutterite
Genetic Disorder Database

Infantile mitochondrial complex II/III deficiency

Disorder
OMIM #: *603485  (Click to access OMIM database)
Disorder: Infantile mitochondrial complex II/III deficiency 
Also known as: IMC23D 
Clinical
Phenotype:  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Old Order Mennonite  
Gene: NFS1
Base Change: G>A, at nucleotide 215
Amino Acid Change: arg 72 --> gln
Last updated: 2019-01-22 

References
Farhan SM, Wang J, Robinson JF, Lahiry P, Siu VM, Prasad C, Kronick JB, Ramsay DA, Rupar CA, Hegele RA. (2014) Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency. Mol Genet Genomic Med Jan;2(1):73-80.
PubMed ID: 24498631 
Maio N, Rouault TA. (2015) Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery. Biochim Biophys Acta Jun;1853(6):1493-512.
PubMed ID: 25245479 

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