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Brief report: systematic review of Rett syndrome in males
Brian Reichow1,2, Annie George-Puskar3, Tara Lutz3
1AJ Pappanikou Center for Excellence in Developmental Disabilities, University of Connecticut Health Center, Farmington, CT, USA. breichow@coe.ufl.edu.
Abstract:
Rett syndrome (RTT) is a neurogenetic disorder in which a period of typical development is followed by loss of previously acquired skills. Once thought to occur exclusively in females, increasing numbers of male cases of RTT have been reported. This systematic review included 36 articles describing 57 cases of RTT in males. Mutations of the MECP2 gene were present in 56 % of cases, and 68 % of cases reported other genetic abnormalities. This is the first review of published reports of RTT in male patients.
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