A detailed analysis of the MECP2 gene : prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients
Mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2) have been found to be a cause of Rett syndrome (RTT). In order to provide further insights into the distribution and the spectrum of mutations, we investigated, in addition to the whole coding sequence, a phylogenetically conserved...
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| Veröffentlicht in: | Human genetics 2001-01, Vol.108 (1), p.43-50 |
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| container_title | Human genetics |
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| creator | BOURDON, Violaine PHILIPPE, Christophe LABRUNE, Orianne AMSALLEM, Daniel ARNOULD, Cécile JONVEAUX, Philippe |
| description | Mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2) have been found to be a cause of Rett syndrome (RTT). In order to provide further insights into the distribution and the spectrum of mutations, we investigated, in addition to the whole coding sequence, a phylogenetically conserved sequence within the 3' untranslated region (3' UTR) of the MECP2 gene for 55 sporadic RTT, including 47 typical and 8 nonclassical cases. We have developed an approach based on conformation-sensitive gel electrophoresis, sequence analysis and, for the first time, Southern blot analysis. Mutation detection, including unreported gross DNA rearrangements, was achieved in 79% of classical RTT and 25% of nonclassical RTT patients. The high prevalence of recurrent mutations allows us to propose a molecular diagnosis strategy for RTT. |
| doi_str_mv | 10.1007/s004390000422 |
| format | Article |
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In order to provide further insights into the distribution and the spectrum of mutations, we investigated, in addition to the whole coding sequence, a phylogenetically conserved sequence within the 3' untranslated region (3' UTR) of the MECP2 gene for 55 sporadic RTT, including 47 typical and 8 nonclassical cases. We have developed an approach based on conformation-sensitive gel electrophoresis, sequence analysis and, for the first time, Southern blot analysis. Mutation detection, including unreported gross DNA rearrangements, was achieved in 79% of classical RTT and 25% of nonclassical RTT patients. 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In order to provide further insights into the distribution and the spectrum of mutations, we investigated, in addition to the whole coding sequence, a phylogenetically conserved sequence within the 3' untranslated region (3' UTR) of the MECP2 gene for 55 sporadic RTT, including 47 typical and 8 nonclassical cases. We have developed an approach based on conformation-sensitive gel electrophoresis, sequence analysis and, for the first time, Southern blot analysis. Mutation detection, including unreported gross DNA rearrangements, was achieved in 79% of classical RTT and 25% of nonclassical RTT patients. The high prevalence of recurrent mutations allows us to propose a molecular diagnosis strategy for RTT.</description><subject>3' Untranslated Regions</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Chromosomal Proteins, Non-Histone</subject><subject>Conserved Sequence</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>DNA-Binding Proteins - genetics</subject><subject>Female</subject><subject>Gene Rearrangement - genetics</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Methyl-CpG-Binding Protein 2</subject><subject>Mutation</subject><subject>Neurology</subject><subject>Repressor Proteins</subject><subject>Rett Syndrome - genetics</subject><subject>Sequence Analysis, DNA</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkEtLHEEQgJsQiavmmKs0BLyNVj_m5W1Zn6AmiDkPPd3Vm5GZnk13j7A3f7o9uBgsiqpDfVVQHyE_GJwygPIsAEhRQwrJ-ReyYFLwjHEQX8kChISsKFm5Tw5CeAZgec3zb2SfMc5kDcWCvC6pwai6Hg1VTvXb0AU6Whr_Ir2_XP3mdI0O6TndeHxRPTqN89ijnrxHF-kwRRW70YW0bujajyHQi4dlIpT3yq1xSFSgnaOPGCMNW2f8OCDdpK15ckT2rOoDft_1Q_Ln6vJpdZPd_bq-XS3vMi1YGTPN8rI1LM-5gEJYXteYimDGtkqg5FIbIziotkVmtYSigMqYOa3VVdJxSE7e7278-G_CEJuhCxr7Xjkcp9CUkNeCV0UCs3dQz794tM3Gd4Py24ZBMytvPilP_PHu8NQOaP7TO8cJ-LkDVNCqt8mK7sIHV1UyBxBvEQiJGg</recordid><startdate>20010101</startdate><enddate>20010101</enddate><creator>BOURDON, Violaine</creator><creator>PHILIPPE, Christophe</creator><creator>LABRUNE, Orianne</creator><creator>AMSALLEM, Daniel</creator><creator>ARNOULD, Cécile</creator><creator>JONVEAUX, Philippe</creator><general>Springer</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20010101</creationdate><title>A detailed analysis of the MECP2 gene : prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients</title><author>BOURDON, Violaine ; PHILIPPE, Christophe ; LABRUNE, Orianne ; AMSALLEM, Daniel ; ARNOULD, Cécile ; JONVEAUX, Philippe</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c317t-c157bd15523063f299ef2931dfba3e424cdd320abbe1fc406608dd8dd8ffc8203</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>3' Untranslated Regions</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Chromosomal Proteins, Non-Histone</topic><topic>Conserved Sequence</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>DNA-Binding Proteins - genetics</topic><topic>Female</topic><topic>Gene Rearrangement - genetics</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Methyl-CpG-Binding Protein 2</topic><topic>Mutation</topic><topic>Neurology</topic><topic>Repressor Proteins</topic><topic>Rett Syndrome - genetics</topic><topic>Sequence Analysis, DNA</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>BOURDON, Violaine</creatorcontrib><creatorcontrib>PHILIPPE, Christophe</creatorcontrib><creatorcontrib>LABRUNE, Orianne</creatorcontrib><creatorcontrib>AMSALLEM, Daniel</creatorcontrib><creatorcontrib>ARNOULD, Cécile</creatorcontrib><creatorcontrib>JONVEAUX, Philippe</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>BOURDON, Violaine</au><au>PHILIPPE, Christophe</au><au>LABRUNE, Orianne</au><au>AMSALLEM, Daniel</au><au>ARNOULD, Cécile</au><au>JONVEAUX, Philippe</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A detailed analysis of the MECP2 gene : prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>2001-01-01</date><risdate>2001</risdate><volume>108</volume><issue>1</issue><spage>43</spage><epage>50</epage><pages>43-50</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>Mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2) have been found to be a cause of Rett syndrome (RTT). In order to provide further insights into the distribution and the spectrum of mutations, we investigated, in addition to the whole coding sequence, a phylogenetically conserved sequence within the 3' untranslated region (3' UTR) of the MECP2 gene for 55 sporadic RTT, including 47 typical and 8 nonclassical cases. We have developed an approach based on conformation-sensitive gel electrophoresis, sequence analysis and, for the first time, Southern blot analysis. Mutation detection, including unreported gross DNA rearrangements, was achieved in 79% of classical RTT and 25% of nonclassical RTT patients. The high prevalence of recurrent mutations allows us to propose a molecular diagnosis strategy for RTT.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>11214906</pmid><doi>10.1007/s004390000422</doi><tpages>8</tpages></addata></record> |
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| language | eng |
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| subjects | 3' Untranslated Regions Base Sequence Biological and medical sciences Chromosomal Proteins, Non-Histone Conserved Sequence Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA-Binding Proteins - genetics Female Gene Rearrangement - genetics Humans Medical sciences Methyl-CpG-Binding Protein 2 Mutation Neurology Repressor Proteins Rett Syndrome - genetics Sequence Analysis, DNA |
| title | A detailed analysis of the MECP2 gene : prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients |
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