Biology:Combined oxidative phosphorylation defect type 17
Combined oxidative phosphorylation deficiency-17 (COXPD17) is a very rare autosomal recessive mitochondrial disease characterized primarily by onset of severe hypertrophic cardiomyopathy in the first year of life.[1][2][3]
Causes and inheritance
COXPD17 is caused by homozygous or compound heterozygous mutations in the ELAC2 gene that functions as a mitochondrial tRNA processing gene.[1][3]
It follows an autosomal recessive inheritance pattern,[1][2][3] which means:[4][5]
Individuals with one mutated copy (heterozygous carriers) are typically asymptomatic and do not show clinical features of the disease.[4][5]
When both parents are carriers, their children have:[4][5]
- 25% (1 in 4) chance of being affected.
- 50% (2 in 4) chance of being asymptomatic carriers.
- 25% (1 in 4) chance of not inheriting the mutation.
Symptoms
Symptoms of COXPD17 include:[1]
- Hypertrophic cardiomyopathy
- Failure to thrive
- Poor growth
- Hypotonia
- Lactic acidosis
Onset
The disorder presents during early infancy, with hypertrophic cardiomyopathy appearing within the first months of life. It may be fatal in early childhood.[1]
References
- ↑ 1.0 1.1 1.2 1.3 1.4 "Entry - #615440 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17; COXPD17 - OMIM - (OMIM.ORG)" (in en-us). https://omim.org/entry/615440.
- ↑ 2.0 2.1 "Combined oxidative phosphorylation defect type 17 (Concept Id: C3809526) - MedGen - NCBI" (in en). https://www.ncbi.nlm.nih.gov/medgen/815856.
- ↑ 3.0 3.1 3.2 Kim, Young A.; Kim, Yoo-Mi; Lee, Yun-Jin; Cheon, Chong Kun (2017). "The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation". Korean Journal of Pediatrics 60 (12): 408–412. doi:10.3345/kjp.2017.60.12.408. ISSN 1738-1061. PMID 29302266. PMC 5752642. https://pmc.ncbi.nlm.nih.gov/articles/PMC5752642/.
- ↑ 4.0 4.1 4.2 "Single-Gene Defects - Special Subjects" (in en). https://www.msdmanuals.com/professional/special-subjects/general-principles-of-medical-genetics/single-gene-defects.
- ↑ 5.0 5.1 5.2 "Autosomal recessive: MedlinePlus Medical Encyclopedia" (in en). https://medlineplus.gov/ency/article/002052.htm.
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