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Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database

Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase).

Citation:
Ta D, Downs J, Baynam G, Wilson A, Richmond P, Leonard H. Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database. Child. 2022;9(5).

Keywords:
Epilepsy; intellectual disability; MECP2 duplication syndrome; neurodevelopmental disorder; recurrent infections

Abstract:
Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase).