Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: COXPD16
Combined oxidative phosphorylation defect type 16
Number of Symptoms 13
OrphanetNr: 352563
OMIM Id: 615395
ICD-10: I42.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 0.1 of 100 000
Inheritance:
Age of onset: Infancy
Childhood
2331554; 25797485 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

MRPL44 encodes a protein in the large subunit of the mitochondrial ribosome. Severely reduced MRPL44 levels in the patient's heart, skeletal muscle and fibroblasts were found suggesting that the missense mutation affect the protein stability (PMID:23315540). The onset is described as infantile onset (PMID:2331554) and childhood-onset (PMID:25797485). Involved genes: MRPL44 (COXPD16) (PMID:25797485);

Symptom Information: Sort by abundance 

1
 (HPO:0011947) Respiratory tract infection 23315540 IBIS 28 / 7739
2
 (HPO:0002151) Increased serum lactate 23315540 IBIS 92 / 7739
3
 (HPO:0001639) Hypertrophic cardiomyopathy Very frequent [IBIS] 23315540 IBIS 137 / 7739
4
 (HPO:0001635) Congestive heart failure 23315540 IBIS 232 / 7739
5
 (HPO:0008972) Decreased activity of mitochondrial respiratory chain Very frequent [IBIS] 23315540 IBIS 34 / 7739
6
 (HPO:0011923) Decreased activity of mitochondrial complex I 23315540 IBIS 35 / 7739
7
 (HPO:0008347) Decreased activity of mitochondrial complex IV 23315540 IBIS 31 / 7739
8
 (HPO:0001397) Hepatic steatosis 23315540 IBIS 75 / 7739
9
 (HPO:0001414) Microvesicular hepatic steatosis 23315540 IBIS 9 / 7739
10
 (HPO:0002910) Elevated hepatic transaminases 23315540 IBIS 158 / 7739
11
 (OMIM) Decreased levels and activity of mitochondrial respiratory complexes I and IV 23315540 IBIS 1 / 7739
12
 (OMIM) Granular retinal pigmentation, mild (in 1 patient) 25797485 IBIS 1 / 7739
13
 (OMIM) Microvesicular steatosis in cardiomyocytes 23315540 IBIS 1 / 7739

Associated genes:

MRPL44;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Carroll et al. (2013) reported 2 Finnish sisters with hypertrophic cardiomyopathy and liver steatosis. One sister died of cardiac failure after a respiratory infection at age 6 months. Postmortem examination showed a pale hypertrophic heart with diffuse, mild ...
Molecular genetics OMIM In 2 Finnish sisters with variable expression of combined oxidative phosphorylation deficiency-16, Carroll et al. (2013) identified a homozygous mutation in the MRPL44 gene (L156R; 611849.0001). The mutation, which was found by whole-exome sequencing and confirmed by Sanger ...