<abstract xmlns="http://www.w3.org/1999/xhtml"><p> The discovery of the methyl-CpG binding protein 2 (MECP2) gene located on Xq28 as being involved in Rett syndrome (RTT) has been followed by a broad spectrum of phenotypes being associated with mutations in MECP2. The distribution of MECP2 mutations has been studied in many populations, but only recently in Romania. We started the first local study searching for MECP2 mutations using PCR (polymerase chain reaction) - based methods and Sanger sequencing. We have investigated 9 patients, all girls, 7 with classical RTT and 2 with atypical RTT from the Western part of Romania. Mutation screening revealed 3 different mutations present in 4 patients and 5 nonpathogenic genetic variations. One of the frameshift mutations has not been previously described: c.225delG (p.P75fs). The detection rate for missense and frameshift mutations was 44 %. In this study we focused on a practical approach necessary for the molecular geneticist in the process of screening RTT patients for MECP2 mutations. The aim is to extend this protocol for screening MECP2 mutations in all cases of MECP2-related Disorders, to offer prenatal diagnosis, and subsequently complete it with techniques which can detect large rearrangements of this gene.</p></abstract>

The discovery of the methyl-CpG binding protein 2 (MECP2) gene located on Xq28 as being involved in Rett syndrome (RTT) has been followed by a broad spectrum of phenotypes being associated with mutations in MECP2. The distribution of MECP2 mutations has been studied in many populations, but only recently in Romania. We started the first local study searching for MECP2 mutations using PCR (polymerase chain reaction) - based methods and Sanger sequencing. We have investigated 9 patients, all girls, 7 with classical RTT and 2 with atypical RTT from the Western part of Romania. Mutation screening revealed 3 different mutations present in 4 patients and 5 nonpathogenic genetic variations. One of the frameshift mutations has not been previously described: c.225delG (p.P75fs). The detection rate for missense and frameshift mutations was 44 %. In this study we focused on a practical approach necessary for the molecular geneticist in the process of screening RTT patients for MECP2 mutations. The aim is to extend this protocol for screening MECP2 mutations in all cases of MECP2-related Disorders, to offer prenatal diagnosis, and subsequently complete it with techniques which can detect large rearrangements of this gene.

Mutation analysis of the MECP2 gene in Romanian females with Rett syndrome

University of Medicine and Pharmacy Victor Babes, Timisoara

Centre for Nephrology, University College London, Royal Free Hospital, London, UK

Institute of Child Health, University College London, London, UK

Neuroscience, Physiology and Pharmacology, University College London, London, UK

Great Ormond Street Hospital for Children, London, UK

Revista Romana de Medicina de Laborator

{"article-title":"Mutation analysis of the MECP2 gene in Romanian females with Rett syndrome"}

The discovery of the methyl-CpG binding protein 2 (MECP2) gene located on Xq28 as being involved in Rett syndrome (RTT) has been followed by a broad spectrum...

Mutation analysis of the MECP2 gene in Romanian females with Rett syndrome

Pubblicato online: 31 dic 2013

Pagine: 437 - 445

DOI: https://doi.org/10.2478/rrlm-2013-0038

This content is open access.