Localization of the ICF Syndrome to Chromosome 20 by Homozygosity Mapping
Immunodeficiency in association with centromere instability of chromosomes 1, 9, and 16 and facial anomalies (ICF syndrome) is a rare autosomal recessive disorder. ICF patients show marked hypomethylation of their DNA; undermethylation of classical satellites II and III is thought to be associated w...
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| Veröffentlicht in: | American journal of human genetics 1998-09, Vol.63 (3), p.803-809 |
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| creator | Wijmenga, Cisca van den Heuvel, Lambert P. W.J. Strengman, Eric Luyten, Jan A.F.M. van der Burgt, Ineke J.A.M. de Groot, Ronald Smeets, Dominique F.C.M. Draaisma, Jos M.T. van Dongen, Jacques J. De Abreu, Ronney A. Pearson, Peter L. Sandkuijl, Lodewijk A. Weemaes, Corry M.R. |
| description | Immunodeficiency in association with centromere instability of chromosomes 1, 9, and 16 and facial anomalies (ICF syndrome) is a rare autosomal recessive disorder. ICF patients show marked hypomethylation of their DNA; undermethylation of classical satellites II and III is thought to be associated with the centromere instability. We used DNA from three consanguineous families with a total of four ICF patients and performed a total genome screen, to localize the ICF syndrome gene by homozygosity mapping. One chromosomal region (20q11-q13) was consistently found to be homozygous in ICF patients, whereas all healthy sibs showed a heterozygous pattern. Comparison of the regions of homozygosity in the four ICF patients localized the
ICF locus to a 9-cM region between the markers D20S477 and D20S850. Analysis of more families will be required, to refine the map location further. Isolation of the gene associated with the ICF syndrome not only will give insight into the etiology of the ICF syndrome but will also broaden our understanding of DNA methylation processes. |
| doi_str_mv | 10.1086/302021 |
| format | Article |
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ICF locus to a 9-cM region between the markers D20S477 and D20S850. Analysis of more families will be required, to refine the map location further. Isolation of the gene associated with the ICF syndrome not only will give insight into the etiology of the ICF syndrome but will also broaden our understanding of DNA methylation processes.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1086/302021</identifier><identifier>PMID: 9718351</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: Elsevier Inc</publisher><subject>Biological and medical sciences ; Centromere instability ; Chromosome 20 ; Chromosome Mapping ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 20 ; Chromosomes, Human, Pair 9 ; Complex syndromes ; Consanguinity ; DNA Methylation ; DNA, Satellite - genetics ; Face - abnormalities ; Female ; Genes, Recessive ; Genetic Markers ; Genomic methylation ; Heterozygote ; Homozygosity mapping ; Homozygote ; Humans ; ICF syndrome ; Immunodeficiency ; Immunologic Deficiency Syndromes - genetics ; Male ; Medical genetics ; Medical sciences ; Nuclear Family ; Pedigree</subject><ispartof>American journal of human genetics, 1998-09, Vol.63 (3), p.803-809</ispartof><rights>1998 The American Society of Human Genetics</rights><rights>1998 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c431t-511890423e7882f52e2ee885fd275a0f4eb411806adca4a58d72a54f90092b5d3</citedby><cites>FETCH-LOGICAL-c431t-511890423e7882f52e2ee885fd275a0f4eb411806adca4a58d72a54f90092b5d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1377409/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://dx.doi.org/10.1086/302021$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,3550,27924,27925,45995,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2390650$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9718351$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wijmenga, Cisca</creatorcontrib><creatorcontrib>van den Heuvel, Lambert P. W.J.</creatorcontrib><creatorcontrib>Strengman, Eric</creatorcontrib><creatorcontrib>Luyten, Jan A.F.M.</creatorcontrib><creatorcontrib>van der Burgt, Ineke J.A.M.</creatorcontrib><creatorcontrib>de Groot, Ronald</creatorcontrib><creatorcontrib>Smeets, Dominique F.C.M.</creatorcontrib><creatorcontrib>Draaisma, Jos M.T.</creatorcontrib><creatorcontrib>van Dongen, Jacques J.</creatorcontrib><creatorcontrib>De Abreu, Ronney A.</creatorcontrib><creatorcontrib>Pearson, Peter L.</creatorcontrib><creatorcontrib>Sandkuijl, Lodewijk A.</creatorcontrib><creatorcontrib>Weemaes, Corry M.R.</creatorcontrib><title>Localization of the ICF Syndrome to Chromosome 20 by Homozygosity Mapping</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Immunodeficiency in association with centromere instability of chromosomes 1, 9, and 16 and facial anomalies (ICF syndrome) is a rare autosomal recessive disorder. ICF patients show marked hypomethylation of their DNA; undermethylation of classical satellites II and III is thought to be associated with the centromere instability. We used DNA from three consanguineous families with a total of four ICF patients and performed a total genome screen, to localize the ICF syndrome gene by homozygosity mapping. One chromosomal region (20q11-q13) was consistently found to be homozygous in ICF patients, whereas all healthy sibs showed a heterozygous pattern. Comparison of the regions of homozygosity in the four ICF patients localized the
ICF locus to a 9-cM region between the markers D20S477 and D20S850. Analysis of more families will be required, to refine the map location further. Isolation of the gene associated with the ICF syndrome not only will give insight into the etiology of the ICF syndrome but will also broaden our understanding of DNA methylation processes.</description><subject>Biological and medical sciences</subject><subject>Centromere instability</subject><subject>Chromosome 20</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 1</subject><subject>Chromosomes, Human, Pair 20</subject><subject>Chromosomes, Human, Pair 9</subject><subject>Complex syndromes</subject><subject>Consanguinity</subject><subject>DNA Methylation</subject><subject>DNA, Satellite - genetics</subject><subject>Face - abnormalities</subject><subject>Female</subject><subject>Genes, Recessive</subject><subject>Genetic Markers</subject><subject>Genomic methylation</subject><subject>Heterozygote</subject><subject>Homozygosity mapping</subject><subject>Homozygote</subject><subject>Humans</subject><subject>ICF syndrome</subject><subject>Immunodeficiency</subject><subject>Immunologic Deficiency Syndromes - genetics</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Nuclear Family</subject><subject>Pedigree</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkEtr4zAUhUVp6aSvf1DQoszO7ZVkWfJmoIQ-AilddGYtFPk6UXGsjOQE3F8_DgmZtivpcg7nHD5CrhjcMtDFnQAOnB2REZNCZUUB8piMAIBnJS_VD3KW0jsAYxrEKTktFdNCshGZTIOzjf-wnQ8tDTXtFkgn40f61rdVDEukXaDjxfALaXtxoLOePg_nRz8PyXc9fbGrlW_nF-Sktk3Cy_17Tv48PvweP2fT16fJ-H6auVywLpPDhBJyLlBpzWvJkSNqLeuKK2mhznGWb1cWtnI2t1JXiluZ1yVAyWeyEufk1y53tZ4tsXLYdtE2ZhX90sbeBOvNV6X1CzMPG8OEUjmUQ8DPfUAMf9eYOrP0yWHT2BbDOhkltIKcwX-jiyGliPWhhIHZQjc76IPx-vOkg21PedBv9rpNA-062tb5dLBxUUIht32ws-GAb-MxmuQ8tg4rH9F1pgr-e_M_Lm-X0w</recordid><startdate>19980901</startdate><enddate>19980901</enddate><creator>Wijmenga, Cisca</creator><creator>van den Heuvel, Lambert P. W.J.</creator><creator>Strengman, Eric</creator><creator>Luyten, Jan A.F.M.</creator><creator>van der Burgt, Ineke J.A.M.</creator><creator>de Groot, Ronald</creator><creator>Smeets, Dominique F.C.M.</creator><creator>Draaisma, Jos M.T.</creator><creator>van Dongen, Jacques J.</creator><creator>De Abreu, Ronney A.</creator><creator>Pearson, Peter L.</creator><creator>Sandkuijl, Lodewijk A.</creator><creator>Weemaes, Corry M.R.</creator><general>Elsevier Inc</general><general>University of Chicago Press</general><scope>6I.</scope><scope>AAFTH</scope><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><scope>5PM</scope></search><sort><creationdate>19980901</creationdate><title>Localization of the ICF Syndrome to Chromosome 20 by Homozygosity Mapping</title><author>Wijmenga, Cisca ; van den Heuvel, Lambert P. W.J. ; Strengman, Eric ; Luyten, Jan A.F.M. ; van der Burgt, Ineke J.A.M. ; de Groot, Ronald ; Smeets, Dominique F.C.M. ; Draaisma, Jos M.T. ; van Dongen, Jacques J. ; De Abreu, Ronney A. ; Pearson, Peter L. ; Sandkuijl, Lodewijk A. ; Weemaes, Corry M.R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c431t-511890423e7882f52e2ee885fd275a0f4eb411806adca4a58d72a54f90092b5d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Biological and medical sciences</topic><topic>Centromere instability</topic><topic>Chromosome 20</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 1</topic><topic>Chromosomes, Human, Pair 20</topic><topic>Chromosomes, Human, Pair 9</topic><topic>Complex syndromes</topic><topic>Consanguinity</topic><topic>DNA Methylation</topic><topic>DNA, Satellite - genetics</topic><topic>Face - abnormalities</topic><topic>Female</topic><topic>Genes, Recessive</topic><topic>Genetic Markers</topic><topic>Genomic methylation</topic><topic>Heterozygote</topic><topic>Homozygosity mapping</topic><topic>Homozygote</topic><topic>Humans</topic><topic>ICF syndrome</topic><topic>Immunodeficiency</topic><topic>Immunologic Deficiency Syndromes - genetics</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Nuclear Family</topic><topic>Pedigree</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wijmenga, Cisca</creatorcontrib><creatorcontrib>van den Heuvel, Lambert P. 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W.J.</au><au>Strengman, Eric</au><au>Luyten, Jan A.F.M.</au><au>van der Burgt, Ineke J.A.M.</au><au>de Groot, Ronald</au><au>Smeets, Dominique F.C.M.</au><au>Draaisma, Jos M.T.</au><au>van Dongen, Jacques J.</au><au>De Abreu, Ronney A.</au><au>Pearson, Peter L.</au><au>Sandkuijl, Lodewijk A.</au><au>Weemaes, Corry M.R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Localization of the ICF Syndrome to Chromosome 20 by Homozygosity Mapping</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>1998-09-01</date><risdate>1998</risdate><volume>63</volume><issue>3</issue><spage>803</spage><epage>809</epage><pages>803-809</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>Immunodeficiency in association with centromere instability of chromosomes 1, 9, and 16 and facial anomalies (ICF syndrome) is a rare autosomal recessive disorder. ICF patients show marked hypomethylation of their DNA; undermethylation of classical satellites II and III is thought to be associated with the centromere instability. We used DNA from three consanguineous families with a total of four ICF patients and performed a total genome screen, to localize the ICF syndrome gene by homozygosity mapping. One chromosomal region (20q11-q13) was consistently found to be homozygous in ICF patients, whereas all healthy sibs showed a heterozygous pattern. Comparison of the regions of homozygosity in the four ICF patients localized the
ICF locus to a 9-cM region between the markers D20S477 and D20S850. Analysis of more families will be required, to refine the map location further. Isolation of the gene associated with the ICF syndrome not only will give insight into the etiology of the ICF syndrome but will also broaden our understanding of DNA methylation processes.</abstract><cop>Chicago, IL</cop><pub>Elsevier Inc</pub><pmid>9718351</pmid><doi>10.1086/302021</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Biological and medical sciences Centromere instability Chromosome 20 Chromosome Mapping Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 20 Chromosomes, Human, Pair 9 Complex syndromes Consanguinity DNA Methylation DNA, Satellite - genetics Face - abnormalities Female Genes, Recessive Genetic Markers Genomic methylation Heterozygote Homozygosity mapping Homozygote Humans ICF syndrome Immunodeficiency Immunologic Deficiency Syndromes - genetics Male Medical genetics Medical sciences Nuclear Family Pedigree |
| title | Localization of the ICF Syndrome to Chromosome 20 by Homozygosity Mapping |
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