title: Mitochondrial disease in 22q13 duplication syndrome.
abstract: Both copy number changes in the 22q13 region and mitochondrial disease have been associated with autism spectrum disorder. In this report, for the first time, a girl with autism spectrum disorder is described who exhibits both mitochondrial disease and a 22q13.1-33 duplication. This child demonstrated hypotonia, developmental delays, growth deficiency, microcephaly, dysmorphic facial features, and white matter abnormalities, consistent with previous cases of 22q13 region duplication. The patient also demonstrated a unique pattern of electron transport chain abnormalities with marked decreases in complex II and II/III in fibroblasts and complex I/III and II/III in muscle tissue. The 22q13.1-33 region contains 6 genes associated with mitochondrial function. Thus, disruption of this chromosomal region could cause many of the clinical findings in this child through disruption of mitochondrial function. Therefore, a mitochondrial workup should be considered in individuals with copy number changes within the 22q13 region, such as those with Phelan-McDermid syndrome.
authors.affiliation: Department of Pediatrics, Division of Child Neurology, Arkansas Children's Hospital, Little Rock, AR 72202, USA. REFrye@uams.edu
authors.forename: Richard E
authors.initials: RE
authors.lastname: Frye
mesh_terms: D002675:Child, Preschool; D025063:Chromosome Disorders / Q000150:complications / Q000235:genetics* / Q000473:pathology; D058674:Chromosome Duplication / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008831:Microcephaly / Q000150:complications / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure