Journal article
Updating the profile of C-terminal MECP2 deletions in Rett syndrome
A Bebbington, A Percy, J Christodoulou, D Ravine, G Ho, P Jacoby, A Anderson, M Pineda, B Ben Zeev, N Bahi-Buisson, E Smeets, H Leonard
Journal of Medical Genetics | BMJ PUBLISHING GROUP | Published : 2010
Abstract
Objectives: This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations and to examine the phenotypic variation within C-terminal deletions. Methods: Cases were selected from InterRett, an international database and from the population-based Australian Rett Syndrome Database. Cases (n=832) were included if they had a pathogenic MECP2 mutation in which the nature of the amino acid change was known. Three severity scale systems were used, and individual aspects of the phenotype were also compared. Results: Lower severity was associated with C-terminal deletions (n=79) compared to all other MECP2 mutations (e.g. Pine..
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Awarded by Eunice Kennedy Shriver National Institute of Child Health and Human Development
Funding Acknowledgements
The authors would like to acknowledge the International Rett Syndrome Foundation (IRSF previously IRSA) for their ongoing support of the InterRett project and their continued encouragement of this international collaboration. We would also like to express our special appreciation to all the families who have participated in the study and all the clinicians who have completed the questionnaires. In particular, we would like to thank, from the Association Francaise du Syndrome de Rett Christiane Roque (past president), Elisabeth Celestin (current president) and Martine Gaudy and Thierry Bienvenu (performed most mutation screening) as well as Yael Yoshei for her assistance to Israeli families. We also acknowledge those members of the InterRett International Reference panel who helped with the piloting of InterRett and the information technology team at the Telethon Institute for Child Health Research for their expertise and assistance. The Australian Rett Syndrome Study was funded by the National Institutes of Health (5R01HD043100-05) and also by the National Health and Medical Research Council (NHMRC) project grant 303189 for certain clinical aspects. Helen Leonard was previously funded by a NHMRC programme grant 353514. Her current funding is from an NHMRC Senior Research Fellowship 572568. We would especially like to express our sincere gratitude to all the Australian families who have contributed to the study by completing questionnaires, the Australian Paediatric Surveillance Unit (APSU) and the Rett Syndrome Association of Australia who facilitated case ascertainment in Australia. The APSU is a unit of the Division of Paediatrics, Royal Australasian College of Physicians, and is funded by the Department of Health and Ageing and the Faculty of Medicine of the University of Sydney.