Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male

Supplementary data associated with this article can be found, in the online version, at doi:10.1016/ j.braindev.2010.09.012
Rett Syndrome (RS; MIM_312750) is a severe and progressive neurodevelopmental disorder affecting principally females. Mutations in X-Linked MECP2 gene (methyl CpG-binding protein 2; MIM_300005) have been reported as being the major cause of RS. Mutations in this gene have been described as cause of wide spectrum of neurological disorders and mental retardation in males. In some cases, mutations in MECP2 in males produce clinical picture similar to RS. Here we report the identification of the novel truncating mutation Y120X in a 4-year-old child with atypical RS phenotype. Chromosome analysis showed a normal karyotype, and blood DNA and tissue DNA analysis reveal a mosaic for the mutation. Patient's mother DNA analysis showed that this is a de novo mutation, that has never been described before in any female or male case of RS. © 2010 The Japanese Society of Child Neurology.
The CIBER de Enfermedades Raras is an initiative of the ISCIII. J.I.P. was supported by Fondo de Investigación Sanitaria.