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

作者：Whibley Annabel; Urquhart Jill; Dore Jonathan; Willatt Lionel; Parkin Georgina; Gaunt Lorraine; Black Graeme; Donnai Dian; Raymond F Lucy^*

来源：European Journal of Human Genetics, 2010, 18(10): 1095-1099.

DOI：10.1038/ejhg.2010.41

• monoamine oxidase
• MAOA and MAOB
• array CGH
• X chromosome
• abnormal hand movement

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. European Journal of Human Genetics (2010) 18, 1095-1099; doi: 10.1038/ejhg.2010.41; published online 19 May 2010

• 出版日期2010-10
• 单位河北医科大学