Combined oxidative phosphorylation deficiency 52
| Disorder | |
|---|---|
| OMIM #: | #619386 (Click to access OMIM database) |
| Disorder: | Combined oxidative phosphorylation deficiency 52 |
| Also known as: | COXPD52 Infantile mitochondrial complex II/III deficiency |
| Clinical | |
| Phenotype: | hypertrophic cardiomyopathy, heart failure, respiratory failure, renal failure, renal failure, vomiting, hypotonia, mitochondrial defects, encephalopathy, developmental delay, seizures, metabolic acidosis, lactic acidosis |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | NFS1 |
| Base Change: | G>A, at nucleotide 215 |
| Amino Acid Change: | arg 72 --> gln |
| Last updated: | 2024-07-30 |
| 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 |
| Hershkovitz T, Kurolap A, Tal G, Paperna T, Mory A, Staples J, Brigatti KW; Regeneron Genetics Center; Gonzaga-Jauregui C, Dumin E, Saada A, Mandel H, Baris Feldman H. (2020) A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes. Mol Genet Metab Rep doi: 10.1016/j.ymgmr.2020.100699. PubMed ID: 33457206 |
| 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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