A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene
The analysis of a de novo 8q12.2–q21.2 deletion led to the identification of a proposed previously undescribed contiguous gene syndrome consisting of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, hydrocephalus and trapeze aplasia. This is the first reported localization of the genes responsible...
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| Veröffentlicht in: | Human molecular genetics 1994, Vol.3 (10), p.1859-1866 |
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| creator | Vincent, Christophe Kalatzis, Vasiliki Compain, Sylvie Levilliers, Jacqueline Slim, Rima Graia, Fatima Pereira, Maria de Lurdes Nivelon, Annie Croquette, Marie-France Lacombe, Didier Vigneron, Jacqueline Helias, Jocelyne Broyer, Michel Callen, David F. Haan, Eric A. Weissenbach, Jean Lacroix, Bruno Bellané-Chantelot, Christine Paslier, Denis Le Cohen, Daniel Petit, Christine |
| description | The analysis of a de novo 8q12.2–q21.2 deletion led to the identification of a proposed previously undescribed contiguous gene syndrome consisting of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, hydrocephalus and trapeze aplasia. This is the first reported localization of the genes responsible for Duane syndrome and this dominant form of hydrocephalus. In contrast, we report a new localization for the gene responsible for BOR syndrome which is more telomeric to an initial placement. Linkage analysis of affected families consistently mapped the gene responsible for BOR and Branchio-Oto (BO) syndromes to within the deletion. Using new algorithms, a YAC contig was constructed and used to localize the breakpoint of another chromosomal rearrangement associated with BO syndrome to a 500 kb interval within the deletion. The 8q12.2–q21.2 deletion suggests that reduced dosage of the relevant genes is sufficient to cause Duane syndrome, BOR syndrome and this dominant form of hydrocephalus. |
| doi_str_mv | 10.1093/hmg/3.10.1859 |
| format | Article |
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This is the first reported localization of the genes responsible for Duane syndrome and this dominant form of hydrocephalus. In contrast, we report a new localization for the gene responsible for BOR syndrome which is more telomeric to an initial placement. Linkage analysis of affected families consistently mapped the gene responsible for BOR and Branchio-Oto (BO) syndromes to within the deletion. Using new algorithms, a YAC contig was constructed and used to localize the breakpoint of another chromosomal rearrangement associated with BO syndrome to a 500 kb interval within the deletion. The 8q12.2–q21.2 deletion suggests that reduced dosage of the relevant genes is sufficient to cause Duane syndrome, BOR syndrome and this dominant form of hydrocephalus.</description><identifier>ISSN: 0964-6906</identifier><identifier>EISSN: 1460-2083</identifier><identifier>DOI: 10.1093/hmg/3.10.1859</identifier><identifier>PMID: 7849713</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Base Sequence ; Biological and medical sciences ; BOR gene ; branchiootorenal syndrome ; Carpal Bones - abnormalities ; Centromere ; chromosome 8 ; Chromosome Deletion ; Chromosome Mapping ; Chromosomes, Artificial, Yeast ; Chromosomes, Human, Pair 8 ; Complex syndromes ; DNA Primers ; Duane Retraction Syndrome - genetics ; Duane's syndrome ; Female ; Genetic Markers ; Humans ; hydrocephalus ; Hydrocephalus - genetics ; In Situ Hybridization, Fluorescence ; Male ; man ; Medical genetics ; Medical sciences ; Molecular Sequence Data ; Pedigree ; Polymorphism, Genetic ; Syndrome ; Telomere ; trapeze aplasia</subject><ispartof>Human molecular genetics, 1994, Vol.3 (10), p.1859-1866</ispartof><rights>1995 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c367t-9eb052b85fadaea567541660157f0401e0de003234a4c338672e6e70ef7042333</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,4010,27900,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3302351$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7849713$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Vincent, Christophe</creatorcontrib><creatorcontrib>Kalatzis, Vasiliki</creatorcontrib><creatorcontrib>Compain, Sylvie</creatorcontrib><creatorcontrib>Levilliers, Jacqueline</creatorcontrib><creatorcontrib>Slim, Rima</creatorcontrib><creatorcontrib>Graia, Fatima</creatorcontrib><creatorcontrib>Pereira, Maria de Lurdes</creatorcontrib><creatorcontrib>Nivelon, Annie</creatorcontrib><creatorcontrib>Croquette, Marie-France</creatorcontrib><creatorcontrib>Lacombe, Didier</creatorcontrib><creatorcontrib>Vigneron, Jacqueline</creatorcontrib><creatorcontrib>Helias, Jocelyne</creatorcontrib><creatorcontrib>Broyer, Michel</creatorcontrib><creatorcontrib>Callen, David F.</creatorcontrib><creatorcontrib>Haan, Eric A.</creatorcontrib><creatorcontrib>Weissenbach, Jean</creatorcontrib><creatorcontrib>Lacroix, Bruno</creatorcontrib><creatorcontrib>Bellané-Chantelot, Christine</creatorcontrib><creatorcontrib>Paslier, Denis Le</creatorcontrib><creatorcontrib>Cohen, Daniel</creatorcontrib><creatorcontrib>Petit, Christine</creatorcontrib><title>A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene</title><title>Human molecular genetics</title><addtitle>Hum Mol Genet</addtitle><description>The analysis of a de novo 8q12.2–q21.2 deletion led to the identification of a proposed previously undescribed contiguous gene syndrome consisting of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, hydrocephalus and trapeze aplasia. This is the first reported localization of the genes responsible for Duane syndrome and this dominant form of hydrocephalus. In contrast, we report a new localization for the gene responsible for BOR syndrome which is more telomeric to an initial placement. Linkage analysis of affected families consistently mapped the gene responsible for BOR and Branchio-Oto (BO) syndromes to within the deletion. Using new algorithms, a YAC contig was constructed and used to localize the breakpoint of another chromosomal rearrangement associated with BO syndrome to a 500 kb interval within the deletion. The 8q12.2–q21.2 deletion suggests that reduced dosage of the relevant genes is sufficient to cause Duane syndrome, BOR syndrome and this dominant form of hydrocephalus.</description><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>BOR gene</subject><subject>branchiootorenal syndrome</subject><subject>Carpal Bones - abnormalities</subject><subject>Centromere</subject><subject>chromosome 8</subject><subject>Chromosome Deletion</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Artificial, Yeast</subject><subject>Chromosomes, Human, Pair 8</subject><subject>Complex syndromes</subject><subject>DNA Primers</subject><subject>Duane Retraction Syndrome - genetics</subject><subject>Duane's syndrome</subject><subject>Female</subject><subject>Genetic Markers</subject><subject>Humans</subject><subject>hydrocephalus</subject><subject>Hydrocephalus - genetics</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Male</subject><subject>man</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Molecular Sequence Data</subject><subject>Pedigree</subject><subject>Polymorphism, Genetic</subject><subject>Syndrome</subject><subject>Telomere</subject><subject>trapeze aplasia</subject><issn>0964-6906</issn><issn>1460-2083</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFUU1v1DAUtBCobAtHjkg-IARS09pxYifi1A9oEa1WrAAhLtbb5GXXJbFTOxEsf5K_hNOuFm6crNHMm3l-Q8gzzo44K8Xxulsdi6MJFXn5gMx4JlmSskI8JDNWyiyRJZOPyX4IN4xxmQm1R_ZUkZWKixn5fUJ773oXsKYWf9DK2cGsRjcGukKLNGxs7V2H1Fla3E50MGEI1DX01IOt1sYl88ElC7TQ0len88Xr3cwhPR_hH49DCrR2nbFgB9o4300u603kKuzX0MZMsDUdPPT4Cyn0LQQDb6jp-tZUMJgYPs3RYY20g743djVZTDAG3y38hDxqoA34dPsekM_v3n46u0yu5hfvz06ukkpINSQlLlmeLou8gRoQcqnyjEvJeK4aljGOrEbGRCoyyCohCqlSlKgYNoplqRDigLy8943Xux0xDLozocK2jR-Ox9NKKSGYLP8r5DIvVOwlCpN7YeVdCB4b3XvTgd9ozvTUtI5Na3GHYtNR_3xrPC47rHfqbbWRf7HlIVTQNlNbJuxkcbtU5PxvbKwVf-5o8N-1VELl-vLrN319vfjw8SL7oqX4AwXWwjs</recordid><startdate>1994</startdate><enddate>1994</enddate><creator>Vincent, Christophe</creator><creator>Kalatzis, Vasiliki</creator><creator>Compain, Sylvie</creator><creator>Levilliers, Jacqueline</creator><creator>Slim, Rima</creator><creator>Graia, Fatima</creator><creator>Pereira, Maria de Lurdes</creator><creator>Nivelon, Annie</creator><creator>Croquette, Marie-France</creator><creator>Lacombe, Didier</creator><creator>Vigneron, Jacqueline</creator><creator>Helias, Jocelyne</creator><creator>Broyer, Michel</creator><creator>Callen, David F.</creator><creator>Haan, Eric A.</creator><creator>Weissenbach, Jean</creator><creator>Lacroix, Bruno</creator><creator>Bellané-Chantelot, Christine</creator><creator>Paslier, Denis Le</creator><creator>Cohen, Daniel</creator><creator>Petit, Christine</creator><general>Oxford University Press</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>AAYXX</scope><scope>CITATION</scope><scope>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope></search><sort><creationdate>1994</creationdate><title>A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene</title><author>Vincent, Christophe ; Kalatzis, Vasiliki ; Compain, Sylvie ; Levilliers, Jacqueline ; Slim, Rima ; Graia, Fatima ; Pereira, Maria de Lurdes ; Nivelon, Annie ; Croquette, Marie-France ; Lacombe, Didier ; Vigneron, Jacqueline ; Helias, Jocelyne ; Broyer, Michel ; Callen, David F. ; Haan, Eric A. ; Weissenbach, Jean ; Lacroix, Bruno ; Bellané-Chantelot, Christine ; Paslier, Denis Le ; Cohen, Daniel ; Petit, Christine</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c367t-9eb052b85fadaea567541660157f0401e0de003234a4c338672e6e70ef7042333</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>BOR gene</topic><topic>branchiootorenal syndrome</topic><topic>Carpal Bones - abnormalities</topic><topic>Centromere</topic><topic>chromosome 8</topic><topic>Chromosome Deletion</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Artificial, Yeast</topic><topic>Chromosomes, Human, Pair 8</topic><topic>Complex syndromes</topic><topic>DNA Primers</topic><topic>Duane Retraction Syndrome - genetics</topic><topic>Duane's syndrome</topic><topic>Female</topic><topic>Genetic Markers</topic><topic>Humans</topic><topic>hydrocephalus</topic><topic>Hydrocephalus - genetics</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Male</topic><topic>man</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Molecular Sequence Data</topic><topic>Pedigree</topic><topic>Polymorphism, Genetic</topic><topic>Syndrome</topic><topic>Telomere</topic><topic>trapeze aplasia</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Vincent, Christophe</creatorcontrib><creatorcontrib>Kalatzis, Vasiliki</creatorcontrib><creatorcontrib>Compain, Sylvie</creatorcontrib><creatorcontrib>Levilliers, Jacqueline</creatorcontrib><creatorcontrib>Slim, Rima</creatorcontrib><creatorcontrib>Graia, Fatima</creatorcontrib><creatorcontrib>Pereira, Maria de Lurdes</creatorcontrib><creatorcontrib>Nivelon, Annie</creatorcontrib><creatorcontrib>Croquette, Marie-France</creatorcontrib><creatorcontrib>Lacombe, Didier</creatorcontrib><creatorcontrib>Vigneron, Jacqueline</creatorcontrib><creatorcontrib>Helias, Jocelyne</creatorcontrib><creatorcontrib>Broyer, Michel</creatorcontrib><creatorcontrib>Callen, David F.</creatorcontrib><creatorcontrib>Haan, Eric A.</creatorcontrib><creatorcontrib>Weissenbach, Jean</creatorcontrib><creatorcontrib>Lacroix, Bruno</creatorcontrib><creatorcontrib>Bellané-Chantelot, Christine</creatorcontrib><creatorcontrib>Paslier, Denis Le</creatorcontrib><creatorcontrib>Cohen, Daniel</creatorcontrib><creatorcontrib>Petit, Christine</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>CrossRef</collection><collection>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human molecular genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Vincent, Christophe</au><au>Kalatzis, Vasiliki</au><au>Compain, Sylvie</au><au>Levilliers, Jacqueline</au><au>Slim, Rima</au><au>Graia, Fatima</au><au>Pereira, Maria de Lurdes</au><au>Nivelon, Annie</au><au>Croquette, Marie-France</au><au>Lacombe, Didier</au><au>Vigneron, Jacqueline</au><au>Helias, Jocelyne</au><au>Broyer, Michel</au><au>Callen, David F.</au><au>Haan, Eric A.</au><au>Weissenbach, Jean</au><au>Lacroix, Bruno</au><au>Bellané-Chantelot, Christine</au><au>Paslier, Denis Le</au><au>Cohen, Daniel</au><au>Petit, Christine</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene</atitle><jtitle>Human molecular genetics</jtitle><addtitle>Hum Mol Genet</addtitle><date>1994</date><risdate>1994</risdate><volume>3</volume><issue>10</issue><spage>1859</spage><epage>1866</epage><pages>1859-1866</pages><issn>0964-6906</issn><eissn>1460-2083</eissn><abstract>The analysis of a de novo 8q12.2–q21.2 deletion led to the identification of a proposed previously undescribed contiguous gene syndrome consisting of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, hydrocephalus and trapeze aplasia. This is the first reported localization of the genes responsible for Duane syndrome and this dominant form of hydrocephalus. In contrast, we report a new localization for the gene responsible for BOR syndrome which is more telomeric to an initial placement. Linkage analysis of affected families consistently mapped the gene responsible for BOR and Branchio-Oto (BO) syndromes to within the deletion. Using new algorithms, a YAC contig was constructed and used to localize the breakpoint of another chromosomal rearrangement associated with BO syndrome to a 500 kb interval within the deletion. The 8q12.2–q21.2 deletion suggests that reduced dosage of the relevant genes is sufficient to cause Duane syndrome, BOR syndrome and this dominant form of hydrocephalus.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>7849713</pmid><doi>10.1093/hmg/3.10.1859</doi><tpages>8</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0964-6906 |
| ispartof | Human molecular genetics, 1994, Vol.3 (10), p.1859-1866 |
| issn | 0964-6906 1460-2083 |
| language | eng |
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| source | MEDLINE; Oxford University Press Journals Digital Archive Legacy |
| subjects | Base Sequence Biological and medical sciences BOR gene branchiootorenal syndrome Carpal Bones - abnormalities Centromere chromosome 8 Chromosome Deletion Chromosome Mapping Chromosomes, Artificial, Yeast Chromosomes, Human, Pair 8 Complex syndromes DNA Primers Duane Retraction Syndrome - genetics Duane's syndrome Female Genetic Markers Humans hydrocephalus Hydrocephalus - genetics In Situ Hybridization, Fluorescence Male man Medical genetics Medical sciences Molecular Sequence Data Pedigree Polymorphism, Genetic Syndrome Telomere trapeze aplasia |
| title | A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene |
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