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A brief history of MECP2 duplication syndrome: 20-years of clinical understanding

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.

Citation:
Ta D, Downs J, Baynam G, Wilson A, Richmond P, Leonard H. A brief history of MECP2 duplication syndrome: 20-years of clinical understanding. Orphanet J Rare Dis. 2022;17(1).

Abstract:
MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome. MDS has an estimated live birth prevalence in males of 1/150,000.