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

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

References

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