DHPLC analysis of the MECP2 gene in Italian Rett patients
2001; Wiley; Volume: 18; Issue: 2 Linguagem: Inglês
10.1002/humu.1162
ISSN1098-1004
AutoresPiero Nicolao, Massimo Carella, Bruno Giometto, B. Tavolato, Riccardo Cattin, Maria Luisa Giovannucci-Uzielli, Marcella Vacca, Floriana Della Ragione, Stefania Piva, Stefania Bortoluzzi, Paolo Gasparini,
Tópico(s)Genomic variations and chromosomal abnormalities
ResumoHuman MutationVolume 18, Issue 2 p. 132-140 Research Article DHPLC analysis of the MECP2 gene in Italian Rett patients Piero Nicolao, Corresponding Author Piero Nicolao [email protected] Department of Neurological and Psychiatric Sciences, Second Neurological Clinic, Padua University, Padua, Italy B.I.R.D. ONLUS Foundation, Costozza di Longare, Vicenza, ItalySecond Neurological Clinic, Via Vendramini 7, 35137 Padova, ItalySearch for more papers by this authorMassimo Carella, Massimo Carella B.I.R.D. ONLUS Foundation, Costozza di Longare, Vicenza, Italy TIGEM (Telethon Institute of Genetics and Medicine), Naples, ItalySearch for more papers by this authorBruno Giometto, Bruno Giometto Department of Neurological and Psychiatric Sciences, Second Neurological Clinic, Padua University, Padua, ItalySearch for more papers by this authorBruno Tavolato, Bruno Tavolato Department of Neurological and Psychiatric Sciences, Second Neurological Clinic, Padua University, Padua, ItalySearch for more papers by this authorRiccardo Cattin, Riccardo Cattin B.I.R.D. ONLUS Foundation, Costozza di Longare, Vicenza, ItalySearch for more papers by this authorMaria Luisa Giovannucci-Uzielli, Maria Luisa Giovannucci-Uzielli Genetics and Molecular Medicine Unit, Department of Pediatrics, University of Florence, Florence, ItalySearch for more papers by this authorMarcella Vacca, Marcella Vacca International Institute of Genetics and Biophysics, CNR, Naples, ItalySearch for more papers by this authorFloriana Della Regione, Floriana Della Regione International Institute of Genetics and Biophysics, CNR, Naples, ItalySearch for more papers by this authorStefania Piva, Stefania Piva Department of Biology, Padua University, Padua, ItalySearch for more papers by this authorStefania Bortoluzzi, Stefania Bortoluzzi Department of Biology, Padua University, Padua, ItalySearch for more papers by this authorPaolo Gasparini, Paolo Gasparini Medical Genetics Unit, IRCCS, CSS, San Giovanni Rotondo (FG), ItalySearch for more papers by this author Piero Nicolao, Corresponding Author Piero Nicolao [email protected] Department of Neurological and Psychiatric Sciences, Second Neurological Clinic, Padua University, Padua, Italy B.I.R.D. ONLUS Foundation, Costozza di Longare, Vicenza, ItalySecond Neurological Clinic, Via Vendramini 7, 35137 Padova, ItalySearch for more papers by this authorMassimo Carella, Massimo Carella B.I.R.D. ONLUS Foundation, Costozza di Longare, Vicenza, Italy TIGEM (Telethon Institute of Genetics and Medicine), Naples, ItalySearch for more papers by this authorBruno Giometto, Bruno Giometto Department of Neurological and Psychiatric Sciences, Second Neurological Clinic, Padua University, Padua, ItalySearch for more papers by this authorBruno Tavolato, Bruno Tavolato Department of Neurological and Psychiatric Sciences, Second Neurological Clinic, Padua University, Padua, ItalySearch for more papers by this authorRiccardo Cattin, Riccardo Cattin B.I.R.D. ONLUS Foundation, Costozza di Longare, Vicenza, ItalySearch for more papers by this authorMaria Luisa Giovannucci-Uzielli, Maria Luisa Giovannucci-Uzielli Genetics and Molecular Medicine Unit, Department of Pediatrics, University of Florence, Florence, ItalySearch for more papers by this authorMarcella Vacca, Marcella Vacca International Institute of Genetics and Biophysics, CNR, Naples, ItalySearch for more papers by this authorFloriana Della Regione, Floriana Della Regione International Institute of Genetics and Biophysics, CNR, Naples, ItalySearch for more papers by this authorStefania Piva, Stefania Piva Department of Biology, Padua University, Padua, ItalySearch for more papers by this authorStefania Bortoluzzi, Stefania Bortoluzzi Department of Biology, Padua University, Padua, ItalySearch for more papers by this authorPaolo Gasparini, Paolo Gasparini Medical Genetics Unit, IRCCS, CSS, San Giovanni Rotondo (FG), ItalySearch for more papers by this author First published: 13 July 2001 https://doi.org/10.1002/humu.1162Citations: 17AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Abstract Rett Syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which almost exclusively affects girls, with an estimated prevalence of one in 10,000–15,000 female births. Mutations in the methyl CpG binding protein 2 gene (MECP2) have been identified in roughly 75% of classical Rett girls. The vast majority of Rett cases (99%) are sporadic in origin, and are due to de novo mutations. We collected DNA samples from 50 Italian classical Rett girls, and screened the MECP2 coding region for mutations by denaturing high-performance liquid chromatography (DHPLC) and subsequent direct sequencing. DHPLC is a recently developed method for mutation screening which identifies heteroduplexes formed in DNA samples containing mismatches between wild type and mutant DNA strands, combining high sensitivity, reduced cost per run, and high throughput. In our series, 19 different de novo MECP2 mutations, eight of which were previously unreported, were found in 35 out of 50 Rett girls (70%). Seven recurrent mutations were characterized in a total of 22 unrelated cases. Initial DHPLC screening allowed the identification of 17 out of 19 different mutations (90%); after optimal conditions were established, this figure increased to 100%, with all recurrent MECP2 mutations generating a characteristic chromatographic profile. Detailed clinical data were available for 27 out of 35 mutation carrying Rett girls. Milder disease was detectable in patients carrying nonsense mutation as compared to patients carrying missense mutations, although this difference was not statistically significant (P = 0.077). Hum Mutat 18:132–140, 2001. © 2001 Wiley-Liss, Inc. REFERENCES Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. 1999. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 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