Journal article

The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children

Peter Giudice-Nairn, Jenny Downs, Kingsley Wong, Dylan Wilson, Daniel Ta, Michael Gattas, David Amor, Elizabeth Thompson, Cathy Kirrali-Borri, Carolyn Ellaway, Helen Leonard

Journal of Paediatrics and Child Health | WILEY | Published : 2019


AIM: The aim of this study was to assess the incidence and prevalence of MECP2 duplication syndrome in Australian children and further define its phenotype. METHODS: The Australian Paediatric Surveillance Unit was used to identify children with MECP2 duplication syndrome between June 2014 and November 2017. Reporting clinicians were invited to complete a questionnaire. Clinician data (n = 20) were supplemented with information from the International Rett Syndrome Phenotype Database and from caregivers (n = 7). Birth prevalence and diagnostic incidence were calculated. RESULTS: The birth prevalence of MECP2 duplication syndrome in Australia was 0.65/100 000 for all live births and 1/100 000 f..

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Funding Acknowledgements

We acknowledge the Australian Paediatric Surveillance Unit for facilitating this study and thank all the clinicians who participated by reporting cases, as well as the families who provided supplementary data. We also thank Dr Karen Woodward (School of Pathology and Laboratory Medicine, The University of Western Australia) for her advice and assistance in interpreting the genetic data.