Neuropediatrics, Inhaltsverzeichnis Neuropediatrics 2001; 32(4): 217-218DOI: 10.1055/s-2001-17377 Short Communication Georg Thieme Verlag Stuttgart · New YorkClosely Related Swedish Rett Syndrome Females - None with MECP2 Mutation RevealedF. Xiang1 , Y. Stenbom2 , Maria Anvret1,4 , B. Hagberg3 1 Department of Clinical Neuroscience, Karolinska Hospital, Stockholm, Sweden 2 OCD-Team, Child- and Adolescent Psychiatry, Stockholm, Sweden 3 Department of Pediatrics, Göteborg University, The Queen Silvia Children's Hospital, Göteborg, Sweden 4 Present address: AstraZeneca R&D Södertälje, Södertälje, Sweden Artikel empfehlen Abstract Artikel einzeln kaufen Mutations in the MECP2 gene are known to be associated with Rett Syndrome (RTT) in the large majority of sporadic cases. Four Swedish families with a total of eight RTT patients (two in each family), were screened and found negative for MECP2 mutations. The series included females with both classical and forme fruste phenotypes. Rett syndrome thus might still be complex and genetically multifactorial. Key words Rett syndrome - MECP2 gene - Mutations Volltext Referenzen References 1 Amir R E, Zoghbi H Y. Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. Am J Med Genet. 2000; 97 147-152 2 Amir R E, Van den Veyver I B, Wan M, Tran C Q, Francke U, Zoghbi H Y. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999; 23 185-188 3 Cheadle J P, Gill H, Fleming N, Maynard J, Kerr A, Leonard H. et al . Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum Mol Genet. 2000; 9 1119-1129 4 Dragich J, Houwink-Manville I, Schanen C. Rett syndrome: a surprising result of mutation in MECP2. Hum Mol Genet. 2000; 9 2365-2375 5 Hagberg B, Witt Engerström. Swedish Rett syndrome basic data register 1960 - 90. In: Witt Engerström I. Rett syndrome in Sweden. Acta Paediatr Scand. 1990; 369 (Suppl) 43-54 6 Hagberg B, Witt Engerström I. The Swedish series of females with Rett syndrome 1960 - 92. Hagberg B. Rett syndrome - Clinical & Biological Aspects. Clinics in Developmental Medicine. No. 127. Cambridge; Mac Keith Press 1993: 21-25 7 Huppke P, Laccone F, Kramer N, Engel W, Hanefeld F. Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet. 2000; 9 1369-1375 8 Wan M, Lee S S, Zhang X, Houwink-Manville I, Song H R, Amir R E. et al . Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet. 1999; 65 1520-1529 9 Xiang F, Buervenich S, Nicolao P, Bailey M E, Zhang Z, Anvret M. Mutation screening in Rett syndrome patients. J Med Genet. 2000; 37 250-255 10 Xiang F, Zhang Z, Clarke A, Joseluiz P, Sakkubai N, Sarojini B. et al . Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq. J Med Genet. 1998; 35 297-300 Fengqing Xiang Department of Clinical Neuroscience CMM-L8-02 Karolinska Hospital 171 76 Stockholm Sweden eMail: Fengqing.Xiang@cmm.ki.se
