Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene
Mutations in the human gene Jagged1 (JAG1) localized in 20p12 have been recently identified as causal for the anomalies found in patients with Alagille syndrome (AGS). This gene encodes a ligand for the Notch1 transmembrane receptor, which plays a key role in cell‐to‐cell signaling during differenti...
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| Veröffentlicht in: | American journal of medical genetics 2001-10, Vol.103 (2), p.166-171 |
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| creator | Stankiewicz, Paweł Rujner, Jolanta Löffler, Christiane Krüger, Antje Nimmakayalu, Manjunath Piłacik, Bożena Krajewska-Walasek, Małgorzata Gutkowska, Anna Hansmann, Ingo Giannakudis, Ioannis |
| description | Mutations in the human gene Jagged1 (JAG1) localized in 20p12 have been recently identified as causal for the anomalies found in patients with Alagille syndrome (AGS). This gene encodes a ligand for the Notch1 transmembrane receptor, which plays a key role in cell‐to‐cell signaling during differentiation and is conserved from C. elegans to human. We report a paracentric inversion (PAI) of chromosome 20p12.2p13 in an individual with AGS who also had α‐1‐antitrypsin deficiency. To our knowledge, this is the first published case of PAI involving the short arm of chromosome 20. Using FISH, fiberFISH, and molecular studies with a ∼40 kb cosmid clone encompassing the entire 36 kb JAG1 gene, we demonstrate that the gene was disrupted by the inversion breakpoint between exons 5 and 6. An unusual association between two most common causes of chronic liver disease in childhood, AGS and α‐1‐antitrypsin deficiency, as well as their influence on the proband's abnormal phenotype are discussed. © 2001 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.1531 |
| format | Article |
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This gene encodes a ligand for the Notch1 transmembrane receptor, which plays a key role in cell‐to‐cell signaling during differentiation and is conserved from C. elegans to human. We report a paracentric inversion (PAI) of chromosome 20p12.2p13 in an individual with AGS who also had α‐1‐antitrypsin deficiency. To our knowledge, this is the first published case of PAI involving the short arm of chromosome 20. Using FISH, fiberFISH, and molecular studies with a ∼40 kb cosmid clone encompassing the entire 36 kb JAG1 gene, we demonstrate that the gene was disrupted by the inversion breakpoint between exons 5 and 6. An unusual association between two most common causes of chronic liver disease in childhood, AGS and α‐1‐antitrypsin deficiency, as well as their influence on the proband's abnormal phenotype are discussed. © 2001 Wiley‐Liss, Inc.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1531</identifier><identifier>PMID: 11568926</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: John Wiley & Sons, Inc</publisher><subject>Alagille syndrome ; Alagille Syndrome - genetics ; Alagille Syndrome - pathology ; Biological and medical sciences ; Blotting, Southern ; Calcium-Binding Proteins ; Child, Preschool ; chromosome 20 ; Chromosome Banding ; Chromosome Inversion ; Chromosomes, Human, Pair 20 - genetics ; DNA - genetics ; Gastroenterology. Liver. Pancreas. Abdomen ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Intercellular Signaling Peptides and Proteins ; Jagged-1 Protein ; Liver. Biliary tract. Portal circulation. Exocrine pancreas ; Male ; Medical sciences ; Membrane Proteins ; Mutation ; Other diseases. Semiology ; paracentric inversion ; Proteins - genetics ; Serrate-Jagged Proteins ; α-1-antitrypsin deficiency</subject><ispartof>American journal of medical genetics, 2001-10, Vol.103 (2), p.166-171</ispartof><rights>Copyright © 2001 Wiley‐Liss, Inc.</rights><rights>2002 INIST-CNRS</rights><rights>Copyright 2001 Wiley-Liss, Inc.</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,782,786,27931,27932</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14147946$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11568926$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Stankiewicz, Paweł</creatorcontrib><creatorcontrib>Rujner, Jolanta</creatorcontrib><creatorcontrib>Löffler, Christiane</creatorcontrib><creatorcontrib>Krüger, Antje</creatorcontrib><creatorcontrib>Nimmakayalu, Manjunath</creatorcontrib><creatorcontrib>Piłacik, Bożena</creatorcontrib><creatorcontrib>Krajewska-Walasek, Małgorzata</creatorcontrib><creatorcontrib>Gutkowska, Anna</creatorcontrib><creatorcontrib>Hansmann, Ingo</creatorcontrib><creatorcontrib>Giannakudis, Ioannis</creatorcontrib><title>Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>Mutations in the human gene Jagged1 (JAG1) localized in 20p12 have been recently identified as causal for the anomalies found in patients with Alagille syndrome (AGS). This gene encodes a ligand for the Notch1 transmembrane receptor, which plays a key role in cell‐to‐cell signaling during differentiation and is conserved from C. elegans to human. We report a paracentric inversion (PAI) of chromosome 20p12.2p13 in an individual with AGS who also had α‐1‐antitrypsin deficiency. To our knowledge, this is the first published case of PAI involving the short arm of chromosome 20. Using FISH, fiberFISH, and molecular studies with a ∼40 kb cosmid clone encompassing the entire 36 kb JAG1 gene, we demonstrate that the gene was disrupted by the inversion breakpoint between exons 5 and 6. An unusual association between two most common causes of chronic liver disease in childhood, AGS and α‐1‐antitrypsin deficiency, as well as their influence on the proband's abnormal phenotype are discussed. © 2001 Wiley‐Liss, Inc.</description><subject>Alagille syndrome</subject><subject>Alagille Syndrome - genetics</subject><subject>Alagille Syndrome - pathology</subject><subject>Biological and medical sciences</subject><subject>Blotting, Southern</subject><subject>Calcium-Binding Proteins</subject><subject>Child, Preschool</subject><subject>chromosome 20</subject><subject>Chromosome Banding</subject><subject>Chromosome Inversion</subject><subject>Chromosomes, Human, Pair 20 - genetics</subject><subject>DNA - genetics</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Infant</subject><subject>Intercellular Signaling Peptides and Proteins</subject><subject>Jagged-1 Protein</subject><subject>Liver. Biliary tract. Portal circulation. Exocrine pancreas</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Membrane Proteins</subject><subject>Mutation</subject><subject>Other diseases. Semiology</subject><subject>paracentric inversion</subject><subject>Proteins - genetics</subject><subject>Serrate-Jagged Proteins</subject><subject>α-1-antitrypsin deficiency</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkU9P3DAQxa2KqmyhB74A8gVuWTx2EtvHFSpLEW05LHCqrEnsLIb8q50t3W_fRLuF04xmfm_0NI-QE2BzYIxf4HOznkMm4AOZAdN5onKuDsiMQaoSybU-JJ9jfGYMxgH_RA4Bslxpns_Ir0WNa1_XjsZta0PXOIoxdqXHwVn66ocnirTHgKVrh-BL6ts_LkTftZSzHvic9yCo9TFs-sG3azo8OXqzWAJdu9Ydk48V1tF92dcjcn_1dXV5ndz-XH67XNwmXkAGSY5aChCqwEJqpm0plVVaZlIybitwWlstuB4dq6rKtLTaKpRVXqSFRCWUOCLnu7t96H5vXBxM42Pp6hpb122ikQBK5FyM4Oke3BSNs6YPvsGwNf8fMgJnewBjiXUVsC19fOdSSKVOJ-5ix7362m3f98xMiZgpETMlYhY335dTMyqSncLHwf19U2B4MbkUMjOPP5ZGr-4eYHX9YFLxD9XCit8</recordid><startdate>20011001</startdate><enddate>20011001</enddate><creator>Stankiewicz, Paweł</creator><creator>Rujner, Jolanta</creator><creator>Löffler, Christiane</creator><creator>Krüger, Antje</creator><creator>Nimmakayalu, Manjunath</creator><creator>Piłacik, Bożena</creator><creator>Krajewska-Walasek, Małgorzata</creator><creator>Gutkowska, Anna</creator><creator>Hansmann, Ingo</creator><creator>Giannakudis, Ioannis</creator><general>John Wiley & Sons, Inc</general><general>Wiley-Liss</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>20011001</creationdate><title>Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene</title><author>Stankiewicz, Paweł ; Rujner, Jolanta ; Löffler, Christiane ; Krüger, Antje ; Nimmakayalu, Manjunath ; Piłacik, Bożena ; Krajewska-Walasek, Małgorzata ; Gutkowska, Anna ; Hansmann, Ingo ; Giannakudis, Ioannis</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-i3151-6a973138bab7909dc78d89757702df1e99d93298928ff597d9d8a7f6b4b7a8383</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Alagille syndrome</topic><topic>Alagille Syndrome - genetics</topic><topic>Alagille Syndrome - pathology</topic><topic>Biological and medical sciences</topic><topic>Blotting, Southern</topic><topic>Calcium-Binding Proteins</topic><topic>Child, Preschool</topic><topic>chromosome 20</topic><topic>Chromosome Banding</topic><topic>Chromosome Inversion</topic><topic>Chromosomes, Human, Pair 20 - genetics</topic><topic>DNA - genetics</topic><topic>Gastroenterology. Liver. Pancreas. Abdomen</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Infant</topic><topic>Intercellular Signaling Peptides and Proteins</topic><topic>Jagged-1 Protein</topic><topic>Liver. Biliary tract. Portal circulation. Exocrine pancreas</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Membrane Proteins</topic><topic>Mutation</topic><topic>Other diseases. Semiology</topic><topic>paracentric inversion</topic><topic>Proteins - genetics</topic><topic>Serrate-Jagged Proteins</topic><topic>α-1-antitrypsin deficiency</topic><toplevel>online_resources</toplevel><creatorcontrib>Stankiewicz, Paweł</creatorcontrib><creatorcontrib>Rujner, Jolanta</creatorcontrib><creatorcontrib>Löffler, Christiane</creatorcontrib><creatorcontrib>Krüger, Antje</creatorcontrib><creatorcontrib>Nimmakayalu, Manjunath</creatorcontrib><creatorcontrib>Piłacik, Bożena</creatorcontrib><creatorcontrib>Krajewska-Walasek, Małgorzata</creatorcontrib><creatorcontrib>Gutkowska, Anna</creatorcontrib><creatorcontrib>Hansmann, Ingo</creatorcontrib><creatorcontrib>Giannakudis, Ioannis</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Stankiewicz, Paweł</au><au>Rujner, Jolanta</au><au>Löffler, Christiane</au><au>Krüger, Antje</au><au>Nimmakayalu, Manjunath</au><au>Piłacik, Bożena</au><au>Krajewska-Walasek, Małgorzata</au><au>Gutkowska, Anna</au><au>Hansmann, Ingo</au><au>Giannakudis, Ioannis</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2001-10-01</date><risdate>2001</risdate><volume>103</volume><issue>2</issue><spage>166</spage><epage>171</epage><pages>166-171</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>Mutations in the human gene Jagged1 (JAG1) localized in 20p12 have been recently identified as causal for the anomalies found in patients with Alagille syndrome (AGS). This gene encodes a ligand for the Notch1 transmembrane receptor, which plays a key role in cell‐to‐cell signaling during differentiation and is conserved from C. elegans to human. We report a paracentric inversion (PAI) of chromosome 20p12.2p13 in an individual with AGS who also had α‐1‐antitrypsin deficiency. To our knowledge, this is the first published case of PAI involving the short arm of chromosome 20. Using FISH, fiberFISH, and molecular studies with a ∼40 kb cosmid clone encompassing the entire 36 kb JAG1 gene, we demonstrate that the gene was disrupted by the inversion breakpoint between exons 5 and 6. An unusual association between two most common causes of chronic liver disease in childhood, AGS and α‐1‐antitrypsin deficiency, as well as their influence on the proband's abnormal phenotype are discussed. © 2001 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>John Wiley & Sons, Inc</pub><pmid>11568926</pmid><doi>10.1002/ajmg.1531</doi><tpages>6</tpages></addata></record> |
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| subjects | Alagille syndrome Alagille Syndrome - genetics Alagille Syndrome - pathology Biological and medical sciences Blotting, Southern Calcium-Binding Proteins Child, Preschool chromosome 20 Chromosome Banding Chromosome Inversion Chromosomes, Human, Pair 20 - genetics DNA - genetics Gastroenterology. Liver. Pancreas. Abdomen Humans In Situ Hybridization, Fluorescence Infant Intercellular Signaling Peptides and Proteins Jagged-1 Protein Liver. Biliary tract. Portal circulation. Exocrine pancreas Male Medical sciences Membrane Proteins Mutation Other diseases. Semiology paracentric inversion Proteins - genetics Serrate-Jagged Proteins α-1-antitrypsin deficiency |
| title | Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene |
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