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Revista chilena de pediatría

versión impresa ISSN 0370-4106

Resumen

ARON W., Carolina; RAUCH L., Geraldinne; BENAVIDES G., Felipe  y  REPETTO L., M. Gabriela. Rett Syndrome: MECP2 gene molecular analysis in Chilean patients. Rev. chil. pediatr. [online]. 2019, vol.90, n.2, pp.152-156. ISSN 0370-4106.  http://dx.doi.org/10.32641/rchped.v90i2.724.

Introduction:

Rett syndrome (RTT) is a progressive neurological disorder characterized by regres sion of psychomotor development in previously healthy girls. Most cases are due to pathogenic va riants in the MECP2 gene which encodes for the methyl CpG-binding protein 2.

Objective:

To des cribe the frequency and type of pathogenic variants in the MECP2 gene in Chilean female patients with clinical diagnosis of RTT.

Patients and Method:

Chilean women with clinical suspicion of RTT were invited to participate in the study. Clinical data were collected through a questionnaire. MECP2 pathogenic variants were analyzed by Sanger sequencing method and Multiplex Ligation-dependent Probe Amplification (MLPA) was used to detect duplications or deletions.

Results:

The study in cluded 14 patients with suspected RTT, of which eight (57%) patients had pathogenic variants. The other patients remain without molecular diagnosis.

Conclusions:

Pathogenic variants in MECP2 are present in Chilean patients with RTT. It is likely that there are other genes or diagnoses involved in patients without MECP2 findings. As of this study, molecular diagnosis is available in Chile.

Palabras clave : Rett Syndrome; MECP2; Methyl-CpG-Binding Protein 2.

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