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Rett Syndrome: North American Database

Civitan International Research Center, University of Alabama at Birmingham, apercy{at}uab.edu

Jane B. Lane, BSN

Civitan International Research Center, University of Alabama at Birmingham

Jerry Childers

Civitan International Research Center, University of Alabama at Birmingham

Steve Skinner, MD

Greenwood Genetic Center, Greenwood, South Carolina

Fran Annese, LMSW

Greenwood Genetic Center, Greenwood, South Carolina

Judy Barrish, BSN

Department of Pediatrics, Baylor College of Medicine, Houston, Texas

Erwin Caeg, BA

Department of Pediatrics, Baylor College of Medicine, Houston, Texas

Daniel G. Glaze, MD

Department of Pediatrics, Baylor College of Medicine, Houston, Texas

Patrick MacLeod, MD

Department of Medical Genetics, University of British Columbia

The International Rett Syndrome Association (IRSA) North American database is the first comprehensive compilation of information in the United States and Canada on individuals with Rett syndrome or with another diagnosis in association with MECP2 mutations. The database contains specific information by diagnosis, mutation status, and mutation type and frequency on 1928 participants. Among the 1928 participants, 85.5% were typical, 13.4% were atypical, and 1.1% had MECP2 mutations but did not have Rett syndrome. MECP2 mutations were identified in 914 of 1059 participants (86%): 799 of 870 (92%) participants with typical Rett syndrome had an MECP2 mutation, 94 of 162 (58%) with atypical Rett syndrome had a mutation, and all 21 individuals diagnosed as Not Rett syndrome had a mutation. Missense-type mutations (39.0%) were slightly more common than nonsense type (35.1%). Individual mutation frequency for the 8 common mutations varied from 11.9% for T158M to 4.4% for R106W; large deletions accounted for 6.4% and C-terminal truncations occurred in 8.8%. The remaining mutations (14.3%) occurred singly or in small numbers. This database provides a unique resource for expanding our understanding of Rett syndrome, for comparison with other national databases, and for future study including organization of clinical trials based on the expected emergence of fundamental therapies.

Key Words: Rett syndrome • MECP2 • mutations • genetics

Journal of Child Neurology, Vol. 22, No. 12, 1338-1341 (2007)
DOI: 10.1177/0883073807308715


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