Abstract

LUNA BARRON, Beatriz et al. Clinical and molecular diagnosis of Rett's syndrome. A case report. Rev. bol. ped. [online]. 2014, vol.53, n.1, pp.8-11. ISSN 1024-0675.

We describe a case of two year old child referred to the service of Genetics with psychomotor retardation, severe neurological regression, microcephaly and stereotyped behavior. The molecular study revealed the heterozygous state of a missense mutation in exon 4 of the gene responsible for this syndrome (sequencing analysis). The clinical features of the disease suggest a pattern of abnormal development of the cerebral cortex in late childhood related to the dysfunction of the MECP2 protein. It's a major genetic cause of autism and should be considered in cases of progressive loss of acquired skills.

Keywords : Rett's Syndrome; mutation; autism.

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