Combined Oxidative Phosphorylation Deficiency 31

Alternative Names

  • COXPD31
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WHO-ICD-10 version:2010

Diseases of the nervous system

Other degenerative diseases of the nervous system

OMIM Number

617228

Mode of Inheritance

Autosomal recessive

Gene Map Locus

13q12.12

Description

Combined Oxidative Phosphorylation Deficiency 31 (COXPD31) is a multi-visceral disorder characterized by developmental delay, microcephaly, seizures, uncontrollable movements, and facial dysmorphy, as well as cardiac, muscular, and ophthalmic abnormalities. Clinical features present at birth or during infancy; the disorder is considered fatal due to the onset of progressive hypertrophic cardiomyopathy (left ventricular non-compaction). Additional symptoms include hypotonia, dystonic hypertonia, cataracts, and vision loss. Biochemical symptoms include increased lactate and alanine, fat and glycogen deposits in skeletal muscle, as well as abnormal mitochondria with reduced activity.

COXPD31 is caused by dysfunction in MIPEP, a gene essential for mitochondrial biogenesis and ATP production.

Molecular Genetics

COXPD31 is an autosomal recessive disorder caused by homozygous or compound heterozygous mutations in MIPEP. This gene is involved in processing precursor mitochondrial enzymes including proteins responsible for oxidative phosphorylation that are required for ATP production. Missense, nonsense, and deletion mutations have been reported in affected individuals.  Functional studies of two identical missense mutations in the yeast homologue protein were found to be deleterious, causing either reduced protease activity or lack of protein localization to mitochondria.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
617228.1United Arab EmiratesUnknown Global developmental delay; Generalized...NM_005932.4:c.1027A>GHomozygousAutosomal, RecessiveAl-Shamsi et al. 2016
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