Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion
We report a novel C-terminal MECP2 frameshift deletion (1135_1142delCCCGTG CC) in a 19-year-old woman with mental retardation and epilepsy. Preservation of language capabilities, purposeful hand use and sufficient locomotion implied an atypical variant of Rett syndrome (OMIM 312750). Occipito-fronta...
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| Veröffentlicht in: | European journal of pediatrics 2005-03, Vol.164 (3), p.154-157 |
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| container_title | European journal of pediatrics |
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| creator | Oexle, Konrad Thamm-Mücke, Barbara Mayer, Thomas Tinschert, Sigrid |
| description | We report a novel C-terminal MECP2 frameshift deletion (1135_1142delCCCGTG CC) in a 19-year-old woman with mental retardation and epilepsy. Preservation of language capabilities, purposeful hand use and sufficient locomotion implied an atypical variant of Rett syndrome (OMIM 312750). Occipito-frontal head circumference was large at birth (36 cm; SDS 1.7) and increased until adulthood (58.5 cm; SDS 2.3).
Our observation indicates that head size and head growth are of limited reliability in the diagnosis of MECP2-associated phenotypes. |
| doi_str_mv | 10.1007/s00431-004-1583-x |
| format | Article |
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Our observation indicates that head size and head growth are of limited reliability in the diagnosis of MECP2-associated phenotypes.</description><identifier>ISSN: 0340-6199</identifier><identifier>EISSN: 1432-1076</identifier><identifier>DOI: 10.1007/s00431-004-1583-x</identifier><identifier>PMID: 15558314</identifier><language>eng</language><publisher>Germany: Springer Nature B.V</publisher><subject>Adult ; Chromosomal Proteins, Non-Histone - genetics ; Codon, Terminator ; DNA Mutational Analysis ; DNA-Binding Proteins - genetics ; Exons ; Female ; Frameshift Mutation ; Head - abnormalities ; Humans ; Intellectual Disability - genetics ; Methyl-CpG-Binding Protein 2 ; Repressor Proteins - genetics ; Rett Syndrome - genetics</subject><ispartof>European journal of pediatrics, 2005-03, Vol.164 (3), p.154-157</ispartof><rights>Springer-Verlag 2005</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c326t-66f7894b312852c813be648c72748e25662f4bac06280c0178ec69a12de49c963</citedby><cites>FETCH-LOGICAL-c326t-66f7894b312852c813be648c72748e25662f4bac06280c0178ec69a12de49c963</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15558314$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Oexle, Konrad</creatorcontrib><creatorcontrib>Thamm-Mücke, Barbara</creatorcontrib><creatorcontrib>Mayer, Thomas</creatorcontrib><creatorcontrib>Tinschert, Sigrid</creatorcontrib><title>Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion</title><title>European journal of pediatrics</title><addtitle>Eur J Pediatr</addtitle><description>We report a novel C-terminal MECP2 frameshift deletion (1135_1142delCCCGTG CC) in a 19-year-old woman with mental retardation and epilepsy. Preservation of language capabilities, purposeful hand use and sufficient locomotion implied an atypical variant of Rett syndrome (OMIM 312750). Occipito-frontal head circumference was large at birth (36 cm; SDS 1.7) and increased until adulthood (58.5 cm; SDS 2.3).
Our observation indicates that head size and head growth are of limited reliability in the diagnosis of MECP2-associated phenotypes.</description><subject>Adult</subject><subject>Chromosomal Proteins, Non-Histone - genetics</subject><subject>Codon, Terminator</subject><subject>DNA Mutational Analysis</subject><subject>DNA-Binding Proteins - genetics</subject><subject>Exons</subject><subject>Female</subject><subject>Frameshift Mutation</subject><subject>Head - abnormalities</subject><subject>Humans</subject><subject>Intellectual Disability - genetics</subject><subject>Methyl-CpG-Binding Protein 2</subject><subject>Repressor Proteins - genetics</subject><subject>Rett Syndrome - genetics</subject><issn>0340-6199</issn><issn>1432-1076</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNpdkE1LJDEURYOMaI_6A9xImIW7aF6SSiVLaRxnQNGFLiWkU6_okvpok7TT_nvTdIMwm_s25154h5Bz4FfAeX2dOFcSWEkGlZFsc0BmoKRgwGv9g8y4VJxpsPaY_EzpjZeOBXNEjqGqCg9qRl4ffIhTwNXS912gA47Z9zRi9rHxuZtG6lOaQuczNvRfl5fU03H6wJ7OWcY4dGPBH27nT4K20Q-Yll2baYM9bsun5LD1fcKz_T0hL79vn-d_2P3j3d_5zT0LUujMtG5rY9VCgjCVCAbkArUyoRa1MigqrUWrFj5wLQwPHGqDQVsPokFlg9XyhFzudldxel9jym7oUsC-9yNO6-R0raQVlSzgr__At2kdyw_JCQFWWClNgWAHFTMpRWzdKnaDj58OuNuKdzvxrqTbineb0rnYD68XAzbfjb1p-QULYn1K</recordid><startdate>200503</startdate><enddate>200503</enddate><creator>Oexle, Konrad</creator><creator>Thamm-Mücke, Barbara</creator><creator>Mayer, Thomas</creator><creator>Tinschert, Sigrid</creator><general>Springer Nature 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>3V.</scope><scope>7RV</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8C1</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9-</scope><scope>K9.</scope><scope>KB0</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>200503</creationdate><title>Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion</title><author>Oexle, Konrad ; 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Preservation of language capabilities, purposeful hand use and sufficient locomotion implied an atypical variant of Rett syndrome (OMIM 312750). Occipito-frontal head circumference was large at birth (36 cm; SDS 1.7) and increased until adulthood (58.5 cm; SDS 2.3).
Our observation indicates that head size and head growth are of limited reliability in the diagnosis of MECP2-associated phenotypes.</abstract><cop>Germany</cop><pub>Springer Nature B.V</pub><pmid>15558314</pmid><doi>10.1007/s00431-004-1583-x</doi><tpages>4</tpages></addata></record> |
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| subjects | Adult Chromosomal Proteins, Non-Histone - genetics Codon, Terminator DNA Mutational Analysis DNA-Binding Proteins - genetics Exons Female Frameshift Mutation Head - abnormalities Humans Intellectual Disability - genetics Methyl-CpG-Binding Protein 2 Repressor Proteins - genetics Rett Syndrome - genetics |
| title | Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion |
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