Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems
We identified, by homozygosity mapping, a novel locus on 10q21.3-q22.1 for Goldberg-Shprintzen syndrome (GOSHS) in a consanguineous Moroccan family. Phenotypic features of GOSHS in this inbred family included microcephaly and mental retardation, which are both central nervous system defects, as well...
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| Veröffentlicht in: | American journal of human genetics 2005-07, Vol.77 (1), p.120-126 |
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| creator | Brooks, Alice S. Bertoli-Avella, Aida M. Burzynski, Grzegorz M. Breedveld, Guido J. Osinga, Jan Boven, Ludolf G. Hurst, Jane A. Mancini, Grazia M.S. Lequin, Maarten H. de Coo, Rene F. Matera, Ivana de Graaff, Esther Meijers, Carel Willems, Patrick J. Tibboel, Dick Oostra, Ben A. Hofstra, Robert M.W. |
| description | We identified, by homozygosity mapping, a novel locus on 10q21.3-q22.1 for Goldberg-Shprintzen syndrome (GOSHS) in a consanguineous Moroccan family. Phenotypic features of GOSHS in this inbred family included microcephaly and mental retardation, which are both central nervous system defects, as well as Hirschsprung disease, an enteric nervous system defect. Furthermore, since bilateral generalized polymicogyria was diagnosed in all patients in this family, this feature might also be considered a key feature of the syndrome. We demonstrate that homozygous nonsense mutations in
KIAA1279 at 10q22.1, encoding a protein with two tetratrico peptide repeats, underlie this syndromic form of Hirschsprung disease and generalized polymicrogyria, establishing the importance of
KIAA1279 in both enteric and central nervous system development. |
| doi_str_mv | 10.1086/431244 |
| format | Article |
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KIAA1279 at 10q22.1, encoding a protein with two tetratrico peptide repeats, underlie this syndromic form of Hirschsprung disease and generalized polymicrogyria, establishing the importance of
KIAA1279 in both enteric and central nervous system development.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1086/431244</identifier><identifier>PMID: 15883926</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: Elsevier Inc</publisher><subject>Abnormalities, Multiple ; Base Sequence ; Biological and medical sciences ; Chromosomes, Human, Pair 10 ; Codon, Nonsense ; Consanguinity ; Enteric Nervous System - abnormalities ; Female ; Gene loci ; General aspects. Genetic counseling ; Genomics ; Hirschsprung Disease - genetics ; Humans ; Intellectual Disability - genetics ; Male ; Medical genetics ; Medical sciences ; Mental retardation ; Mutation ; Nerve Tissue Proteins ; Nervous system ; Nervous System Malformations - genetics ; Pedigree ; Syndrome</subject><ispartof>American journal of human genetics, 2005-07, Vol.77 (1), p.120-126</ispartof><rights>2005 The American Society of Human Genetics</rights><rights>2005 INIST-CNRS</rights><rights>Copyright University of Chicago, acting through its Press Jul 2005</rights><rights>2005 by The American Society of Human Genetics. All rights reserved. 2005</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c493t-7e98a2ba2e5b15ee51e9baa6cc44b0eb76e387598ee9228daa36962eb70fd1113</citedby><cites>FETCH-LOGICAL-c493t-7e98a2ba2e5b15ee51e9baa6cc44b0eb76e387598ee9228daa36962eb70fd1113</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/PMC1226183/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://dx.doi.org/10.1086/431244$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,315,728,781,785,886,3551,27929,27930,46000,53796,53798</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17030928$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15883926$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Brooks, Alice S.</creatorcontrib><creatorcontrib>Bertoli-Avella, Aida M.</creatorcontrib><creatorcontrib>Burzynski, Grzegorz M.</creatorcontrib><creatorcontrib>Breedveld, Guido J.</creatorcontrib><creatorcontrib>Osinga, Jan</creatorcontrib><creatorcontrib>Boven, Ludolf G.</creatorcontrib><creatorcontrib>Hurst, Jane A.</creatorcontrib><creatorcontrib>Mancini, Grazia M.S.</creatorcontrib><creatorcontrib>Lequin, Maarten H.</creatorcontrib><creatorcontrib>de Coo, Rene F.</creatorcontrib><creatorcontrib>Matera, Ivana</creatorcontrib><creatorcontrib>de Graaff, Esther</creatorcontrib><creatorcontrib>Meijers, Carel</creatorcontrib><creatorcontrib>Willems, Patrick J.</creatorcontrib><creatorcontrib>Tibboel, Dick</creatorcontrib><creatorcontrib>Oostra, Ben A.</creatorcontrib><creatorcontrib>Hofstra, Robert M.W.</creatorcontrib><title>Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>We identified, by homozygosity mapping, a novel locus on 10q21.3-q22.1 for Goldberg-Shprintzen syndrome (GOSHS) in a consanguineous Moroccan family. Phenotypic features of GOSHS in this inbred family included microcephaly and mental retardation, which are both central nervous system defects, as well as Hirschsprung disease, an enteric nervous system defect. Furthermore, since bilateral generalized polymicogyria was diagnosed in all patients in this family, this feature might also be considered a key feature of the syndrome. We demonstrate that homozygous nonsense mutations in
KIAA1279 at 10q22.1, encoding a protein with two tetratrico peptide repeats, underlie this syndromic form of Hirschsprung disease and generalized polymicrogyria, establishing the importance of
KIAA1279 in both enteric and central nervous system development.</description><subject>Abnormalities, Multiple</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Chromosomes, Human, Pair 10</subject><subject>Codon, Nonsense</subject><subject>Consanguinity</subject><subject>Enteric Nervous System - abnormalities</subject><subject>Female</subject><subject>Gene loci</subject><subject>General aspects. Genetic counseling</subject><subject>Genomics</subject><subject>Hirschsprung Disease - genetics</subject><subject>Humans</subject><subject>Intellectual Disability - genetics</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Mental retardation</subject><subject>Mutation</subject><subject>Nerve Tissue Proteins</subject><subject>Nervous system</subject><subject>Nervous System Malformations - genetics</subject><subject>Pedigree</subject><subject>Syndrome</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkV1rFDEUhgdR7Fr1J0gQ6t1oPiaT5EYYlmqLbb1Qr0Mmc6abMpPUJLuy_npTdmi1N0IghPPwnnPyVNVrgt8TLNsPDSO0aZ5UK8KZqNsW86fVCmNMa0WVOKpepHSDMSESs-fVEeFSMkXbVbU7C3P4vb8O24Sugk9QDrrcZpNdeSHn0ZfzriNUKNRFQF1KwTqTYUC_XN6gSzONIc4LHUaUN4DW4HM0EzJ-QKc-Q3QWXUHc3fX4tk8Z5vSyejaaKcGr5T6ufnw6_b4-qy--fj5fdxe1bRTLtQAlDe0NBd4TDsAJqN6Y1tqm6TH0ogUmBVcSQFEqB2NYq1paCngcCCHsuPp4yL3d9jMM9jCZvo1uNnGvg3H634p3G30ddppQ2hLJSsC7JSCGn1tIWc8uWZgm46Hso1shFRaY_xckinOGiSjg20fgTdhGX35BU1KG57Q4uk-zMaQUYbwfmWB9J1wfhBfwzd8LPmCL4QKcLIBJttiKxluXHjiBGVZUFg4fOCg6dg6iTtaBtzC4CDbrIbjHvf8A7-vDFQ</recordid><startdate>20050701</startdate><enddate>20050701</enddate><creator>Brooks, Alice S.</creator><creator>Bertoli-Avella, Aida M.</creator><creator>Burzynski, Grzegorz M.</creator><creator>Breedveld, Guido J.</creator><creator>Osinga, Jan</creator><creator>Boven, Ludolf G.</creator><creator>Hurst, Jane A.</creator><creator>Mancini, Grazia M.S.</creator><creator>Lequin, Maarten H.</creator><creator>de Coo, Rene F.</creator><creator>Matera, Ivana</creator><creator>de Graaff, Esther</creator><creator>Meijers, Carel</creator><creator>Willems, Patrick J.</creator><creator>Tibboel, Dick</creator><creator>Oostra, Ben A.</creator><creator>Hofstra, Robert M.W.</creator><general>Elsevier Inc</general><general>University of Chicago Press</general><general>Cell Press</general><general>American Society of Human Genetics</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>7QP</scope><scope>7TK</scope><scope>7TM</scope><scope>7U7</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20050701</creationdate><title>Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems</title><author>Brooks, Alice S. ; Bertoli-Avella, Aida M. ; Burzynski, Grzegorz M. ; Breedveld, Guido J. ; Osinga, Jan ; Boven, Ludolf G. ; Hurst, Jane A. ; Mancini, Grazia M.S. ; Lequin, Maarten H. ; de Coo, Rene F. ; Matera, Ivana ; de Graaff, Esther ; Meijers, Carel ; Willems, Patrick J. ; Tibboel, Dick ; Oostra, Ben A. ; Hofstra, Robert M.W.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c493t-7e98a2ba2e5b15ee51e9baa6cc44b0eb76e387598ee9228daa36962eb70fd1113</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Abnormalities, Multiple</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Chromosomes, Human, Pair 10</topic><topic>Codon, Nonsense</topic><topic>Consanguinity</topic><topic>Enteric Nervous System - abnormalities</topic><topic>Female</topic><topic>Gene loci</topic><topic>General aspects. Genetic counseling</topic><topic>Genomics</topic><topic>Hirschsprung Disease - genetics</topic><topic>Humans</topic><topic>Intellectual Disability - genetics</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Mental retardation</topic><topic>Mutation</topic><topic>Nerve Tissue Proteins</topic><topic>Nervous system</topic><topic>Nervous System Malformations - genetics</topic><topic>Pedigree</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Brooks, Alice S.</creatorcontrib><creatorcontrib>Bertoli-Avella, Aida M.</creatorcontrib><creatorcontrib>Burzynski, Grzegorz M.</creatorcontrib><creatorcontrib>Breedveld, Guido J.</creatorcontrib><creatorcontrib>Osinga, Jan</creatorcontrib><creatorcontrib>Boven, Ludolf G.</creatorcontrib><creatorcontrib>Hurst, Jane A.</creatorcontrib><creatorcontrib>Mancini, Grazia M.S.</creatorcontrib><creatorcontrib>Lequin, Maarten H.</creatorcontrib><creatorcontrib>de Coo, Rene F.</creatorcontrib><creatorcontrib>Matera, Ivana</creatorcontrib><creatorcontrib>de Graaff, Esther</creatorcontrib><creatorcontrib>Meijers, Carel</creatorcontrib><creatorcontrib>Willems, Patrick J.</creatorcontrib><creatorcontrib>Tibboel, Dick</creatorcontrib><creatorcontrib>Oostra, Ben A.</creatorcontrib><creatorcontrib>Hofstra, Robert M.W.</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</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>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Brooks, Alice S.</au><au>Bertoli-Avella, Aida M.</au><au>Burzynski, Grzegorz M.</au><au>Breedveld, Guido J.</au><au>Osinga, Jan</au><au>Boven, Ludolf G.</au><au>Hurst, Jane A.</au><au>Mancini, Grazia M.S.</au><au>Lequin, Maarten H.</au><au>de Coo, Rene F.</au><au>Matera, Ivana</au><au>de Graaff, Esther</au><au>Meijers, Carel</au><au>Willems, Patrick J.</au><au>Tibboel, Dick</au><au>Oostra, Ben A.</au><au>Hofstra, Robert M.W.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>2005-07-01</date><risdate>2005</risdate><volume>77</volume><issue>1</issue><spage>120</spage><epage>126</epage><pages>120-126</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>We identified, by homozygosity mapping, a novel locus on 10q21.3-q22.1 for Goldberg-Shprintzen syndrome (GOSHS) in a consanguineous Moroccan family. Phenotypic features of GOSHS in this inbred family included microcephaly and mental retardation, which are both central nervous system defects, as well as Hirschsprung disease, an enteric nervous system defect. Furthermore, since bilateral generalized polymicogyria was diagnosed in all patients in this family, this feature might also be considered a key feature of the syndrome. We demonstrate that homozygous nonsense mutations in
KIAA1279 at 10q22.1, encoding a protein with two tetratrico peptide repeats, underlie this syndromic form of Hirschsprung disease and generalized polymicrogyria, establishing the importance of
KIAA1279 in both enteric and central nervous system development.</abstract><cop>Chicago, IL</cop><pub>Elsevier Inc</pub><pmid>15883926</pmid><doi>10.1086/431244</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Cell Press Free Archives; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Access via ScienceDirect (Elsevier); PubMed Central |
| subjects | Abnormalities, Multiple Base Sequence Biological and medical sciences Chromosomes, Human, Pair 10 Codon, Nonsense Consanguinity Enteric Nervous System - abnormalities Female Gene loci General aspects. Genetic counseling Genomics Hirschsprung Disease - genetics Humans Intellectual Disability - genetics Male Medical genetics Medical sciences Mental retardation Mutation Nerve Tissue Proteins Nervous system Nervous System Malformations - genetics Pedigree Syndrome |
| title | Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems |
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