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- Published on: 31 May 2021
- Published on: 31 May 2021Evidence for a mitochondrial disease phenotype due to APOO deletion.
Evidence for a mitochondrial disease phenotype due to APOO deletion.
Kumarie Latchman1*, Antoni Barrientos 2*1. Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, United States
2. Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, United States.
*Corresponding authorsThe APOO (Apolipoprotein O) gene codes for MIC26, a subunit of the MICOS complex (mitochondrial contact site and cristae organizing system). APOO was recently reported as a novel mitochondrial disease locus upon identification of a loss-of-function missense variant, c. 350T>C , (p.I117T in MIC26 ) in a hemizygous male proband with mitochondrial myopathy, lactic acidosis, cognitive impairment, and autistic features. 1
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Here, we present a six-year-old African American male with a history of epilepsy, developmental delay, hypotonia, coordination and balance difficulties, cognitive impairment, autism disorder, and microcytic anemia. Birth history was unremarkable, and he walked at 24 months despite coordination and balance deficits. His vocabulary is less than ten words at six years old, and he does not recognize body parts, letters, or numbers. Laboratory findings include normal lactic acid, 1.8 (0.4-1.8 mmol/L), and creatine kinase 126 U/L (<160 U/L). Brain magnetic resonance image was unremarkable. Family history is positive for schizophrenia and intellectual disability in his mother and psychi...Conflict of Interest:
None declared.