Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotyped hand movements

F Lucy Raymond (1) , Annabel C Whibley (1) , Jill Urquhart (1) , Jonathan Dore (1) , Lionel R Willatt (1) , Georgina Parkin (1) , Lorraine Gaunt (1) , Graeme Black (1) , Dian Donnai (1)

1 Department of Medical Genetics

The monoamine oxidases (MAO-A and MAO-B) play a key role in the degradation of amine neurotransmitters, such as dopamine, norepinephrine, and serotonin. We identified an inherited 240kb 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 stereotyped 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.

Mots clés: MAOA and MAOB; X chromosome; array CGH

F Lucy Raymond, Annabel C Whibley, Jill Urquhart, Jonathan Dore, Lionel R Willatt, et al.. Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotyped hand movements. European Journal of Human Genetics, 2010, ⟨10.1038/ejhg.2010.41⟩. ⟨hal-00537680⟩