MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother
Rett syndrome is a severe neurodevelopmental disorder affecting principally females and characterized by a normal postnatal development followed by stagnation and regression of acquired skills. We report a 4-year-old boy with a Rett syndrome phenotype and his unaffected mother both carrying a 44 bp...
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| Veröffentlicht in: | Brain & development (Tokyo. 1979) 2007, Vol.29 (1), p.47-50 |
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| container_title | Brain & development (Tokyo. 1979) |
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| creator | Dayer, Alexandre G. Bottani, Armand Bouchardy, Isabelle Fluss, Joel Antonarakis, Stylianos E. Haenggeli, Charles-Antoine Morris, Michael A. |
| description | Rett syndrome is a severe neurodevelopmental disorder affecting principally females and characterized by a normal postnatal development followed by stagnation and regression of acquired skills. We report a 4-year-old boy with a Rett syndrome phenotype and his unaffected mother both carrying a 44
bp truncating deletion mutation (c.1158del44 or p.388X) in the MECP2 gene. The presence of a skewed X inactivation in the mother provides a possible explanation for the absence of penetrance. The finding of a MECP2 mutation in an unaffected female complicates genetic counseling and further confirms that it is essential to look for mutations in the mothers of all patients with MECP2 mutations. |
| doi_str_mv | 10.1016/j.braindev.2006.06.001 |
| format | Article |
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bp truncating deletion mutation (c.1158del44 or p.388X) in the MECP2 gene. The presence of a skewed X inactivation in the mother provides a possible explanation for the absence of penetrance. The finding of a MECP2 mutation in an unaffected female complicates genetic counseling and further confirms that it is essential to look for mutations in the mothers of all patients with MECP2 mutations.</description><identifier>ISSN: 0387-7604</identifier><identifier>EISSN: 1872-7131</identifier><identifier>DOI: 10.1016/j.braindev.2006.06.001</identifier><identifier>PMID: 16844334</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>Adult ; Child, Preschool ; DNA Mutational Analysis ; Female ; Gene Deletion ; Gene Frequency - genetics ; Genetic Diseases, X-Linked - genetics ; Genetic Predisposition to Disease - genetics ; Genetic Testing ; Heterozygote ; Humans ; Inheritance Patterns - genetics ; Male ; MECP2 ; Mental retardation ; Methyl-CpG-Binding Protein 2 - genetics ; Mothers ; Mutation - genetics ; Penetrance ; Phenotype ; Rett syndrome ; Rett Syndrome - diagnosis ; Rett Syndrome - genetics ; X Chromosome Inactivation - genetics ; X-linked disease</subject><ispartof>Brain & development (Tokyo. 1979), 2007, Vol.29 (1), p.47-50</ispartof><rights>2006 Elsevier B.V.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c419t-94d68020108d18ebab2e42f7779ca97501012a697bf0f3e78a205abe8a1133603</citedby><cites>FETCH-LOGICAL-c419t-94d68020108d18ebab2e42f7779ca97501012a697bf0f3e78a205abe8a1133603</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.braindev.2006.06.001$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,4024,27923,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16844334$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Dayer, Alexandre G.</creatorcontrib><creatorcontrib>Bottani, Armand</creatorcontrib><creatorcontrib>Bouchardy, Isabelle</creatorcontrib><creatorcontrib>Fluss, Joel</creatorcontrib><creatorcontrib>Antonarakis, Stylianos E.</creatorcontrib><creatorcontrib>Haenggeli, Charles-Antoine</creatorcontrib><creatorcontrib>Morris, Michael A.</creatorcontrib><title>MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother</title><title>Brain & development (Tokyo. 1979)</title><addtitle>Brain Dev</addtitle><description>Rett syndrome is a severe neurodevelopmental disorder affecting principally females and characterized by a normal postnatal development followed by stagnation and regression of acquired skills. We report a 4-year-old boy with a Rett syndrome phenotype and his unaffected mother both carrying a 44
bp truncating deletion mutation (c.1158del44 or p.388X) in the MECP2 gene. The presence of a skewed X inactivation in the mother provides a possible explanation for the absence of penetrance. The finding of a MECP2 mutation in an unaffected female complicates genetic counseling and further confirms that it is essential to look for mutations in the mothers of all patients with MECP2 mutations.</description><subject>Adult</subject><subject>Child, Preschool</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Gene Deletion</subject><subject>Gene Frequency - genetics</subject><subject>Genetic Diseases, X-Linked - genetics</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genetic Testing</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Inheritance Patterns - genetics</subject><subject>Male</subject><subject>MECP2</subject><subject>Mental retardation</subject><subject>Methyl-CpG-Binding Protein 2 - genetics</subject><subject>Mothers</subject><subject>Mutation - genetics</subject><subject>Penetrance</subject><subject>Phenotype</subject><subject>Rett syndrome</subject><subject>Rett Syndrome - diagnosis</subject><subject>Rett Syndrome - genetics</subject><subject>X Chromosome Inactivation - genetics</subject><subject>X-linked disease</subject><issn>0387-7604</issn><issn>1872-7131</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkEtPwzAMgCMEgvH4C1NO3DrstGvaG2gaDwkEQsA1SluXZepjJClo_HoybYgjkiUr8ufY_hgbI0wQML1YTgqrTVfR50QApJNNAO6xEWZSRBJj3GcjiDMZyRSSI3bs3BICIRAO2RGmWZLEcTJibw_z2ZPg7eB157luGmqIm45rXvRr_mX8gj-T99ytu8r2LXHdVXxhHB86XddUegpP8mT77_V7Pzje9n5B9pQd1LpxdLbLJ-z1ev4yu43uH2_uZlf3UZlg7qM8qdIMBCBkFWZU6EJQImopZV7qXE5DAYVOc1nUUMckMy1gqgvKNGIcpxCfsPPtvyvbfwzkvGqNK6lpdEdhGxXuFCiEDGC6BUvbO2epVitrWm3XCkFtjKql-jWqNkbVJgBD43g3YShaqv7adgoDcLkFKNz5acgqVxrqSqqMDX5U1Zv_ZvwA3ZKJ7w</recordid><startdate>2007</startdate><enddate>2007</enddate><creator>Dayer, Alexandre G.</creator><creator>Bottani, Armand</creator><creator>Bouchardy, Isabelle</creator><creator>Fluss, Joel</creator><creator>Antonarakis, Stylianos E.</creator><creator>Haenggeli, Charles-Antoine</creator><creator>Morris, Michael A.</creator><general>Elsevier B.V</general><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><scope>8BM</scope></search><sort><creationdate>2007</creationdate><title>MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother</title><author>Dayer, Alexandre G. ; Bottani, Armand ; Bouchardy, Isabelle ; Fluss, Joel ; Antonarakis, Stylianos E. ; Haenggeli, Charles-Antoine ; Morris, Michael A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c419t-94d68020108d18ebab2e42f7779ca97501012a697bf0f3e78a205abe8a1133603</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Adult</topic><topic>Child, Preschool</topic><topic>DNA Mutational Analysis</topic><topic>Female</topic><topic>Gene Deletion</topic><topic>Gene Frequency - genetics</topic><topic>Genetic Diseases, X-Linked - genetics</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Genetic Testing</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Inheritance Patterns - genetics</topic><topic>Male</topic><topic>MECP2</topic><topic>Mental retardation</topic><topic>Methyl-CpG-Binding Protein 2 - genetics</topic><topic>Mothers</topic><topic>Mutation - genetics</topic><topic>Penetrance</topic><topic>Phenotype</topic><topic>Rett syndrome</topic><topic>Rett Syndrome - diagnosis</topic><topic>Rett Syndrome - genetics</topic><topic>X Chromosome Inactivation - genetics</topic><topic>X-linked disease</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Dayer, Alexandre G.</creatorcontrib><creatorcontrib>Bottani, Armand</creatorcontrib><creatorcontrib>Bouchardy, Isabelle</creatorcontrib><creatorcontrib>Fluss, Joel</creatorcontrib><creatorcontrib>Antonarakis, Stylianos E.</creatorcontrib><creatorcontrib>Haenggeli, Charles-Antoine</creatorcontrib><creatorcontrib>Morris, Michael A.</creatorcontrib><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><collection>ComDisDome</collection><jtitle>Brain & development (Tokyo. 1979)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Dayer, Alexandre G.</au><au>Bottani, Armand</au><au>Bouchardy, Isabelle</au><au>Fluss, Joel</au><au>Antonarakis, Stylianos E.</au><au>Haenggeli, Charles-Antoine</au><au>Morris, Michael A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother</atitle><jtitle>Brain & development (Tokyo. 1979)</jtitle><addtitle>Brain Dev</addtitle><date>2007</date><risdate>2007</risdate><volume>29</volume><issue>1</issue><spage>47</spage><epage>50</epage><pages>47-50</pages><issn>0387-7604</issn><eissn>1872-7131</eissn><abstract>Rett syndrome is a severe neurodevelopmental disorder affecting principally females and characterized by a normal postnatal development followed by stagnation and regression of acquired skills. We report a 4-year-old boy with a Rett syndrome phenotype and his unaffected mother both carrying a 44
bp truncating deletion mutation (c.1158del44 or p.388X) in the MECP2 gene. The presence of a skewed X inactivation in the mother provides a possible explanation for the absence of penetrance. The finding of a MECP2 mutation in an unaffected female complicates genetic counseling and further confirms that it is essential to look for mutations in the mothers of all patients with MECP2 mutations.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>16844334</pmid><doi>10.1016/j.braindev.2006.06.001</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0387-7604 |
| ispartof | Brain & development (Tokyo. 1979), 2007, Vol.29 (1), p.47-50 |
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| language | eng |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | Adult Child, Preschool DNA Mutational Analysis Female Gene Deletion Gene Frequency - genetics Genetic Diseases, X-Linked - genetics Genetic Predisposition to Disease - genetics Genetic Testing Heterozygote Humans Inheritance Patterns - genetics Male MECP2 Mental retardation Methyl-CpG-Binding Protein 2 - genetics Mothers Mutation - genetics Penetrance Phenotype Rett syndrome Rett Syndrome - diagnosis Rett Syndrome - genetics X Chromosome Inactivation - genetics X-linked disease |
| title | MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother |
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