Combined oxidative phosphorylation defect type 7

General Information (adopted from Orphanet):

Synonyms, Signs: COXPD7
Number of Symptoms 27
OrphanetNr: 254930
OMIM Id: 613559
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Monogenic
20598281 [IBIS]
Age of onset: Childhood
20598281 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Mitochondrial disorder due to a defect in mitochondrial protein synthesis
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Comment:

C12orf65 (= COXPD7) belongs to a family of four mitochondrial class I peptide release factors, which also includes mtRF1a, mtRF1, and Ict1, all characterized by the presence of a GGQ motif at the active site. However, C12orf65 does not exhibit peptidyl-tRNA hydrolase activity in an in vitro assay with bacterial ribosomes. It is suggested that it might play a role in recycling abortive peptidyl-tRNA species, released from the ribosome during the elongation phase of translation (PMID:20598281).

Symptom Information: Sort by abundance 

1
 (HPO:0000648) Optic atrophy 20598281 IBIS 238 / 7739
2
 (HPO:0000639) Nystagmus 20598281 IBIS 555 / 7739
3
 (HPO:0000602) Ophthalmoplegia 20598281 IBIS 56 / 7739
4
 (HPO:0000505) Visual impairment 20598281 IBIS 297 / 7739
5
 (HPO:0000508) Ptosis 20598281 IBIS 459 / 7739
6
 (HPO:0002151) Increased serum lactate 20598281 IBIS 92 / 7739
7
 (HPO:0001508) Failure to thrive 20598281 IBIS 454 / 7739
8
 (HPO:0011925) Decreased activity of mitochondrial ATP synthase complex 20598281 IBIS 10 / 7739
9
 (HPO:0011923) Decreased activity of mitochondrial complex I 20598281 IBIS 35 / 7739
10
 (HPO:0011924) Decreased activity of mitochondrial complex III 20598281 IBIS 22 / 7739
11
 (HPO:0008347) Decreased activity of mitochondrial complex IV 20598281 IBIS 31 / 7739
12
 (HPO:0001349) Facial diplegia 20598281 IBIS 16 / 7739
13
 (HPO:0003202) Skeletal muscle atrophy 20598281 IBIS 281 / 7739
14
 (HPO:0001252) Muscular hypotonia 20598281 IBIS 990 / 7739
15
 (HPO:0001324) Muscle weakness 20598281 IBIS 859 / 7739
16
 (HPO:0002490) Increased CSF lactate 20598281 IBIS 28 / 7739
17
 (HPO:0002936) Distal sensory impairment 20598281 IBIS 96 / 7739
18
 (HPO:0001271) Polyneuropathy 20598281 IBIS 56 / 7739
19
 (HPO:0001251) Ataxia 20598281 IBIS 413 / 7739
20
 (HPO:0001260) Dysarthria 20598281 IBIS 329 / 7739
21
 (HPO:0002376) Developmental regression 20598281 IBIS 74 / 7739
22
 (HPO:0001263) Global developmental delay 20598281 IBIS 853 / 7739
23
 (HPO:0001284) Areflexia 20598281 IBIS 198 / 7739
24
 (HPO:0002590) Paralytic ileus 20598281 IBIS 4 / 7739
25
 (OMIM) Brain imaging shows lesions in the thalami, brainstem, and cerebellum 20598281 IBIS 1 / 7739
26
 (OMIM) Chewing/swallowing difficulties 20598281 IBIS 3 / 7739
27
 (OMIM) Fibroblasts show decreased activity of mitochondrial respiratory complex I, complex III, complex IV, and complex V 20598281 IBIS 2 / 7739

Associated genes:

C12orf65;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Antonicka et al. (2010) reported 3 patients, including 2 sibs, with a complex phenotype associated with a combined mitochondrial oxidative phosphorylation deficiency. The first child was a girl, born of consanguineous Turkish parents, who showed failure to thrive ...
Molecular genetics OMIM By genomewide linkage analysis followed by candidate gene sequencing in a patient with a combined oxidative phosphorylation defect born of consanguineous Turkish parents, Antonicka et al. (2010) identified a homozygous mutation in the C12ORF65 gene (613541.0001). Two affected ...