Abstract
Mitochondrial diseases constitute a group of heterogeneous hereditary diseases caused by impairments in mitochondrial oxidative phosphorylation and abnormal cellular energy metabolism. C1QBP plays an important role in mitochondrial homeostasis. In this study, clinical, laboratory examinations, 12-lead electrocardiographic, ultrasonic cardiogram, and magnetic resonance imaging data were collected from four members of a Chinese family. Whole exome were amplified and sequenced for the proband. The structure of protein encoded by the mutation was predicted using multiple software programs. The proband was a 14-year old boy with myocardial hypertrophy, exercise intolerance, ptosis, and increased lactate. His 9-year old brother exhibited similar clinical manifestations while the phenomenon of ptosis was not as noticeable as the proband. The onset of this disease was in infancy in both cases. They were born after uneventful pregnancies of five generation blood relative Chinese parents. A homozygous mutation (Leu275Phe) in the C1QBP gene was identified in both brothers in an autosomal recessive inherited pattern. Their parents were heterozygous mutation carriers without clinical manifestations. We demonstrated that a homozygous C1QBP- P.Leu275Phe mutation in an autosomal recessive inherited mode of inheritance caused early onset combined oxidative phosphorylation deficiency 33 (COXPD 33) (OMIM:617713) in two brothers from a Chinese family.
Highlights
Mitochondrial disease is a type of inherited metabolic disorder caused by defects in mitochondrial metabolic enzymes that result in disorders pertaining to adenosine triphosphate (ATP) synthesis and in insufficient energy sources
We reported an early onset of COXPD 33 in two Chinese brothers with hypertrophic cardiomyopathy (HCM), exercise intolerance, TABLE 1 | Genetic and clinical findings in individuals with component 1 Q subcomponent-binding protein (C1QBP) mutation
Four individuals from unrelated families with biallelic mutations in C1QBP had COXPD 33 [12]. They were presented with exercise intolerance, progressive external ophthalmoplegia (PEO), and cardiomyopathy
Summary
Mitochondrial disease is a type of inherited metabolic disorder caused by defects in mitochondrial metabolic enzymes that result in disorders pertaining to adenosine triphosphate (ATP) synthesis and in insufficient energy sources. Combined Oxidative Phosphorylation Deficiency genes associated with mitochondrial disease have been identified [3]. Complement component 1 Q subcomponent-binding protein (C1QBP), known as p32, is an evolutionary conserved and ubiquitously expressed multifunctional protein [6] It is a predominant mitochondrial matrix protein involved in inflammation and infection processes, mitochondrial ribosome biogenesis, regulation of apoptosis and nuclear transcription, and pre-messenger ribonucleic acid (mRNA) splicing [7,8,9,10]. The biallelic mutation of C1QBP caused a combined oxidative phosphorylation deficiency 33 (COXPD 33) (OMIM:617713). Marchet et al [13] reported two unrelated adult patients from consanguineous families with homozygous mutations in C1QBP were reported They presenting with progressive external ophthalmoplegia (PEO), mitochondrial myopathy and without any heart involvement. The brothers had an early onset COXPD 33 with clinical manifestations of hypertrophic cardiomyopathy (HCM), exercise intolerance, and documented patterns of increased lactate
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