Abstract
Monoamine oxidases (MAO-A and MAO-B) have a key role in the degradation of amine neurotransmitters, such as dopamine, norepinephrine and serotonin. We identified an inherited 240 kb deletion on Xp11.3–p11.4, which encompasses both monoamine oxidase genes but, unlike other published reports, does not affect the adjacent Norrie disease gene (NDP). The brothers who inherited the deletion, and thus have no monoamine oxidase function, presented with severe developmental delay, intermittent hypotonia and stereotypical hand movements. The clinical features accord with published reports of larger microdeletions and selective MAO-A and MAO-B deficiencies in humans and mouse models and suggest considerable functional compensation between MAO-A and MAO-B under normal conditions.
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Acknowledgements
The authors thank Dr Richard Newton for his clinical contribution to the research and the IGOLD consortium, particularly Patrick Tarpey, Michael Stratton, Gillian Turner, Jozef Gecz, Charles Schwartz and Roger Stevenson, for their continuing efforts to elucidate the genetic basis of inherited learning disability. This work was supported by NIHR through the Cambridge and Manchester Biomedical Research Centres, the Wellcome Trust and Action Medical Research.
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Whibley, A., Urquhart, J., Dore, J. et al. Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements. Eur J Hum Genet 18, 1095–1099 (2010). https://doi.org/10.1038/ejhg.2010.41
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DOI: https://doi.org/10.1038/ejhg.2010.41
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