Gevork N Mnatzakanian1, Hannes Lohi1, Iulia Munteanu1, 2, Simon E Alfred3, Takahiro Yamada1, Patrick J M MacLeod4, Julie R Jones5, Stephen W Scherer1, 2, N Carolyn Schanen6, Michael J Friez5, John B Vincent2, 3, 8
& Berge A Minassian1, 2, 7, 81
Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.
2
Institute of Medical Sciences, University of Toronto, Toronto, Ontario M5S 1A8, Canada.
3
The Centre for Addiction and Mental Health, 250 College Street, Toronto, Ontario M5T 1R8, Canada.
4
Division of Medical Genetics, Victoria General Hospital, One Hospital Way, Victoria, British Columbia V8R 6R5, Canada.
5
Greenwood Genetic Center, One Gregor Mendel Circle, Greenwood, South Carolina 29646, USA.
6
Nemours Research Program, Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, Delaware 19803, USA.
7
Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.
8
These authors contributed equally to this work.
Correspondence should be addressed to Berge A Minassian bminass@sickkids.ca
80% of affected individuals. We describe a previously unknown MeCP2 isoform. Mutations unique to this isoform and the absence, until now, of identified mutations specific to the previously recognized protein indicate an important role for the newly discovered molecule in the pathogenesis of Rett syndrome.
