Neuropediatrics 2001; 32(4): 217-218
DOI: 10.1055/s-2001-17377
Short Communication

Georg Thieme Verlag Stuttgart · New York

Closely Related Swedish Rett Syndrome Females - None with MECP2 Mutation Revealed

F. 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
Further Information

Publication History

Publication Date:
25 September 2001 (online)

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.

References

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Fengqing Xiang

Department of Clinical Neuroscience CMM-L8-02 Karolinska Hospital

171 76 Stockholm

Sweden

Email: Fengqing.Xiang@cmm.ki.se

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