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Novel Mutations in COQ4 Leading to CoQ10 Deficiency and a Lethal Neonatal Mitochondrial Encephalomyopathy

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Novel Mutations in COQ4 Leading to CoQ10 Deficiency and a Lethal Neonatal Mitochondrial Encephalomyopathy

Background

•CoQ10 is an essential component of the electron transport chain and deficiency leads to a range of mitochondrial conditions
•at least ten enzymes are responsible for CoQ10 biosynthesis
•Mutations in COQ4 have been described in only 11 patients leading to a lethal neonatal mitochondrial encephalomyopathy, called CoQ10 deficiency type 7
•most commonly reported features are neonatal onset, respiratory distress and lactic acidosis 
 
Case Description
•presented at birth with respiratory distress and severe hypertrophic cardiomyopathy
•developed refractory seizures
•poor feeding with gastroesophogeal reflux disease
•repeated episodes of apnea
•Microcephaly and hypotonia noted on exam
•MRI showed cerebellar atrophy with a lactate peak on MRS
• Blood lactate ranged from normal up to 13.5 (N 0-2.4mmol/L) 
 
Investigations
Mitochondrial nuclear gene panel - COQ4
•c.23_33del11 (V8AfsX19) – pathogenic (maternal)
•c.356C>T (P119L) – likely pathogenic (paternal) semi-conservative AA substitution at a conserved   position, in silico predicts probably damaging
•c.331G>T (D111Y) – VUS (paternal)

 Autopsy

severe hypertrophic cardiomyopathy, with marked endocardial fibroelastosis

Conclusions

•Case adds to the phenotypic description of this rare, severe mitochondrial encephalomyopathy
•Hypertrophic cardiomyopathy and refractory seizures were significant in our case and not reported in all affected patients
•Gene panels are useful in confirmation of a rare mitochondrial condition
•Clinical phenotyping and biochemical confirmation is important to support pathogenesis of unreported variants, ensure accurate diagnosis and allow the option of prenatal diagnosis  
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