Send to:

Choose Destination
See comment in PubMed Commons below
J Child Neurol. 2012 Jul;27(7):942-9. doi: 10.1177/0883073811429858. Epub 2012 Feb 28.

Mitochondrial disease in 22q13 duplication syndrome.

Author information

  • 1Department of Pediatrics, Division of Child Neurology, Arkansas Children's Hospital, Little Rock, AR 72202, USA.


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.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire
    Loading ...
    Write to the Help Desk