Identification of a novel frameshift mutation (383insT) in the RUNX2 (PEBP2 α/CBFA1/AML3) gene in a Japanese patient with cleidocranial dysplasia
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder due to mutations in runt-related gene 2 (RUNX2)/polyomavirus enhancer-binding protein 2alphaA (PEBP2alphaA)/core-binding factor A1 (CBFA1)/acute myeloid leukemia 3 (AML3). To investigate the RUNX2 mutations in a Japanese patient with cl...
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| Veröffentlicht in: | Journal of bone and mineral metabolism 2001-01, Vol.19 (4), p.263-266 |
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| creator | GOSEKI-SONE, Masae ORIMO, Hideo OIDA, Shinichiro WATANABE, Atsushi HAMATANI, Ryoko YOKOZEKI, Masahiko OHYAMA, Kimie KURODA, Takayuki WATANABE, Hisashi MIYAZAKI, Hidetaka SHIMADA, Takashi |
| description | Cleidocranial dysplasia (CCD) is an autosomal dominant disorder due to mutations in runt-related gene 2 (RUNX2)/polyomavirus enhancer-binding protein 2alphaA (PEBP2alphaA)/core-binding factor A1 (CBFA1)/acute myeloid leukemia 3 (AML3). To investigate the RUNX2 mutations in a Japanese patient with classic CCD, we analyzed the RUNX2 gene using polymerase chain reaction (PCR)-single-strand conformation polymorphism and PCR-restriction fragment length polymorphism. The patient had hypoplasia of the clavicles, patent fontanelles, short stature, supernumerary teeth, and retention of deciduous dentition. We identified a 1-bp insertion (383insT) at codon 128 of the RUNX2 gene. The 383T insertion affects the conserved residue in the runt domain and results in premature termination in the runt domain. |
| doi_str_mv | 10.1007/s007740170030 |
| format | Article |
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To investigate the RUNX2 mutations in a Japanese patient with classic CCD, we analyzed the RUNX2 gene using polymerase chain reaction (PCR)-single-strand conformation polymorphism and PCR-restriction fragment length polymorphism. The patient had hypoplasia of the clavicles, patent fontanelles, short stature, supernumerary teeth, and retention of deciduous dentition. We identified a 1-bp insertion (383insT) at codon 128 of the RUNX2 gene. The 383T insertion affects the conserved residue in the runt domain and results in premature termination in the runt domain.</description><identifier>ISSN: 0914-8779</identifier><identifier>EISSN: 1435-5604</identifier><identifier>DOI: 10.1007/s007740170030</identifier><identifier>PMID: 11448020</identifier><language>eng</language><publisher>Tokyo: Springer</publisher><subject>Adolescent ; Amino Acid Sequence ; Base Sequence ; Biological and medical sciences ; Clavicle - diagnostic imaging ; Cleidocranial Dysplasia - diagnostic imaging ; Cleidocranial Dysplasia - genetics ; Core Binding Factor Alpha 1 Subunit ; Diseases of the osteoarticular system ; DNA - genetics ; Frameshift Mutation ; Genes ; Humans ; Japan ; Male ; Malformations and congenital and or hereditary diseases involving bones. Joint deformations ; Medical sciences ; Microbiology ; Mutation ; Neoplasm Proteins ; Phenotype ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single-Stranded Conformational ; Radiography ; Tooth - diagnostic imaging ; Transcription Factors - genetics</subject><ispartof>Journal of bone and mineral metabolism, 2001-01, Vol.19 (4), p.263-266</ispartof><rights>2001 INIST-CNRS</rights><rights>Springer-Verlag Tokyo 2001</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c430t-9d3a7bb82666eac5eca1695c6033c0cdf4639ea289f42d4ac09014e57c7a0ece3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1072851$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11448020$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>GOSEKI-SONE, Masae</creatorcontrib><creatorcontrib>ORIMO, Hideo</creatorcontrib><creatorcontrib>OIDA, Shinichiro</creatorcontrib><creatorcontrib>WATANABE, Atsushi</creatorcontrib><creatorcontrib>HAMATANI, Ryoko</creatorcontrib><creatorcontrib>YOKOZEKI, Masahiko</creatorcontrib><creatorcontrib>OHYAMA, Kimie</creatorcontrib><creatorcontrib>KURODA, Takayuki</creatorcontrib><creatorcontrib>WATANABE, Hisashi</creatorcontrib><creatorcontrib>MIYAZAKI, Hidetaka</creatorcontrib><creatorcontrib>SHIMADA, Takashi</creatorcontrib><title>Identification of a novel frameshift mutation (383insT) in the RUNX2 (PEBP2 α/CBFA1/AML3) gene in a Japanese patient with cleidocranial dysplasia</title><title>Journal of bone and mineral metabolism</title><addtitle>J Bone Miner Metab</addtitle><description>Cleidocranial dysplasia (CCD) is an autosomal dominant disorder due to mutations in runt-related gene 2 (RUNX2)/polyomavirus enhancer-binding protein 2alphaA (PEBP2alphaA)/core-binding factor A1 (CBFA1)/acute myeloid leukemia 3 (AML3). To investigate the RUNX2 mutations in a Japanese patient with classic CCD, we analyzed the RUNX2 gene using polymerase chain reaction (PCR)-single-strand conformation polymorphism and PCR-restriction fragment length polymorphism. The patient had hypoplasia of the clavicles, patent fontanelles, short stature, supernumerary teeth, and retention of deciduous dentition. We identified a 1-bp insertion (383insT) at codon 128 of the RUNX2 gene. The 383T insertion affects the conserved residue in the runt domain and results in premature termination in the runt domain.</description><subject>Adolescent</subject><subject>Amino Acid Sequence</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Clavicle - diagnostic imaging</subject><subject>Cleidocranial Dysplasia - diagnostic imaging</subject><subject>Cleidocranial Dysplasia - genetics</subject><subject>Core Binding Factor Alpha 1 Subunit</subject><subject>Diseases of the osteoarticular system</subject><subject>DNA - genetics</subject><subject>Frameshift Mutation</subject><subject>Genes</subject><subject>Humans</subject><subject>Japan</subject><subject>Male</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>Medical sciences</subject><subject>Microbiology</subject><subject>Mutation</subject><subject>Neoplasm Proteins</subject><subject>Phenotype</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Radiography</subject><subject>Tooth - diagnostic imaging</subject><subject>Transcription Factors - genetics</subject><issn>0914-8779</issn><issn>1435-5604</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqF0cFu1DAQBmALgehSOHJFlkCoPYQdx04cH7ertrRaoEKtxC2adSasq8QJcdKqr8Gb8CJ9JlztSlAuXOyDP_0z1s_YawEfBICeh3hoBUIDSHjCZkLJLMlyUE_ZDIxQSaG12WMvQriGqDItnrM9IZQqIIUZ-3lWkR9d7SyOrvO8qzly391Qw-sBWwobV4-8ncbt84EspPPh8pA7z8cN8a9Xn7-l_ODi-Ogi5fe_5sujk4WYLz6t5CH_Tp4eHPJz7NFTIN7HmDiP37pxw21DrursgN5hw6u70DcYHL5kz2psAr3a3fvs6uT4cvkxWX05PVsuVolVEsbEVBL1el2keZ4T2owsitxkNgcpLdiqVrk0hGlhapVWCi0YEIoybTUCWZL77P02tx-6HxOFsWxdsNQ0cdVuCqUGUyhtsv9CUehU50pG-PYfeN1Ng4-fKIUQMpNQaBNVslV26EIYqC77wbU43JUCyodOy0edRv9mlzqtW6r-6F2JEbzbAQwWm9ibty78larTIhPyN21PpqI</recordid><startdate>20010101</startdate><enddate>20010101</enddate><creator>GOSEKI-SONE, Masae</creator><creator>ORIMO, Hideo</creator><creator>OIDA, Shinichiro</creator><creator>WATANABE, Atsushi</creator><creator>HAMATANI, Ryoko</creator><creator>YOKOZEKI, Masahiko</creator><creator>OHYAMA, Kimie</creator><creator>KURODA, Takayuki</creator><creator>WATANABE, Hisashi</creator><creator>MIYAZAKI, Hidetaka</creator><creator>SHIMADA, Takashi</creator><general>Springer</general><general>Springer Nature B.V</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>3V.</scope><scope>7QP</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>KB0</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>20010101</creationdate><title>Identification of a novel frameshift mutation (383insT) in the RUNX2 (PEBP2 α/CBFA1/AML3) gene in a Japanese patient with cleidocranial dysplasia</title><author>GOSEKI-SONE, Masae ; ORIMO, Hideo ; OIDA, Shinichiro ; WATANABE, Atsushi ; HAMATANI, Ryoko ; YOKOZEKI, Masahiko ; OHYAMA, Kimie ; KURODA, Takayuki ; WATANABE, Hisashi ; MIYAZAKI, Hidetaka ; SHIMADA, Takashi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c430t-9d3a7bb82666eac5eca1695c6033c0cdf4639ea289f42d4ac09014e57c7a0ece3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Adolescent</topic><topic>Amino Acid Sequence</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Clavicle - diagnostic imaging</topic><topic>Cleidocranial Dysplasia - diagnostic imaging</topic><topic>Cleidocranial Dysplasia - genetics</topic><topic>Core Binding Factor Alpha 1 Subunit</topic><topic>Diseases of the osteoarticular system</topic><topic>DNA - genetics</topic><topic>Frameshift Mutation</topic><topic>Genes</topic><topic>Humans</topic><topic>Japan</topic><topic>Male</topic><topic>Malformations and congenital and or hereditary diseases involving bones. 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To investigate the RUNX2 mutations in a Japanese patient with classic CCD, we analyzed the RUNX2 gene using polymerase chain reaction (PCR)-single-strand conformation polymorphism and PCR-restriction fragment length polymorphism. The patient had hypoplasia of the clavicles, patent fontanelles, short stature, supernumerary teeth, and retention of deciduous dentition. We identified a 1-bp insertion (383insT) at codon 128 of the RUNX2 gene. The 383T insertion affects the conserved residue in the runt domain and results in premature termination in the runt domain.</abstract><cop>Tokyo</cop><pub>Springer</pub><pmid>11448020</pmid><doi>10.1007/s007740170030</doi><tpages>4</tpages></addata></record> |
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| subjects | Adolescent Amino Acid Sequence Base Sequence Biological and medical sciences Clavicle - diagnostic imaging Cleidocranial Dysplasia - diagnostic imaging Cleidocranial Dysplasia - genetics Core Binding Factor Alpha 1 Subunit Diseases of the osteoarticular system DNA - genetics Frameshift Mutation Genes Humans Japan Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Microbiology Mutation Neoplasm Proteins Phenotype Polymorphism, Restriction Fragment Length Polymorphism, Single-Stranded Conformational Radiography Tooth - diagnostic imaging Transcription Factors - genetics |
| title | Identification of a novel frameshift mutation (383insT) in the RUNX2 (PEBP2 α/CBFA1/AML3) gene in a Japanese patient with cleidocranial dysplasia |
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