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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
De novo mosaic MECP2 mutation in a female with Rett syndrome
Angelos Alexandrou1, Ioannis Papaevripidou1, Ioanna Maria Alexandrou1
1Department of Cytogenetics and Genomics The Cyprus Institute of Neurology and Genetics Nicosia Cyprus.
Abstract:
We describe a female with Rett syndrome carrying a rare de novo mosaic nonsense mutation on MECP2 gene, with random X-chromosome inactivation. Rett syndrome severity in females depends on mosaicism level and tissue specificity, X-chromosome inactivation, epigenetics and environment. Rett syndrome should be considered in both males and females.
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