Rett syndrome: the Brazilian contribution to the gene discovery.

José Luiz Pinto Pereira,Alex Tiburtino Meira,José Luiz Pedroso,Hélio A G Teive,Orlando G P Barsottini

doi:10.1590/0004-282x20190110

Abstract

A brief history of the syndrome discovered by Andreas Rett is reported in this paper. Although having been described in 1966, the syndrome was only recognized by the international community after a report by Hagberg et al. in 1983. Soon, its importance was evident as a relatively frequent cause of severe encephalopathy among girls. From the beginning it was difficult to explain the absence of male patients and the almost total predominance of sporadic cases (99%), with very few familial cases. For these reasons, it was particularly difficult to investigate this condition until 1997, when a particular Brazilian family greatly helped in the final discovery of the gene, and in the clarification of its genetic mechanism. Brief references are made to the importance of the MECP2 gene, 18 years later, as well as to its role in synaptogenesis and future prospects.

Highlights

A brief history of the syndrome discovered by Andreas Rett is reported in this paper
From the beginning it was difficult to explain the absence of male patients and the almost total predominance of sporadic cases (99%), with very few familial cases
It was difficult to investigate this condition until 1997, when a particular Brazilian family greatly helped in the final discovery of the gene, and in the clarification of its genetic mechanism

Summary

Introduction

A brief history of the syndrome discovered by Andreas Rett is reported in this paper. Rett syndrome, which was described 52 years ago in Vienna, Austria, by Andreas Rett, a pediatrician, is caused by a heterozygous mutation of the MECP2 gene located in the distal region of the X chromosome, which encodes a MECP2 protein, or methyl-CpG 2 binding repressor protein, which binds to methylated DNA1,2. This gene has the function of silencing others, regulating the synaptogenesis process in the infant brain, which peaks in the first two years of life – when the classic syndrome is expressed clinically as stagnation and even regression of neurological or psychomotor development.

Results

Conclusion