The Gene for an Inherited Form of Deafness Maps to Chromosome 5q31
Primary-i.e., nonsyndromal-postlingual deafness is inherited as an autosomal dominant phenotype in a large kindred in Costa Rica. Genetically susceptible individuals begin to lose hearing at low frequencies at about age 10 years, after language and speaking are learned. Deafness inevitably progresse...
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| Veröffentlicht in: | Proceedings of the National Academy of Sciences - PNAS 1992-06, Vol.89 (11), p.5181-5184 |
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| container_title | Proceedings of the National Academy of Sciences - PNAS |
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| creator | Leon, Pedro E. Raventos, Henriette Lynch, Eric Morrow, Jan King, Mary-Claire |
| description | Primary-i.e., nonsyndromal-postlingual deafness is inherited as an autosomal dominant phenotype in a large kindred in Costa Rica. Genetically susceptible individuals begin to lose hearing at low frequencies at about age 10 years, after language and speaking are learned. Deafness inevitably progresses by age 30 years to bilateral hearing loss of all frequencies. Intelligence, fertility, and life expectancy are normal. The family traces its ancestry to an affected founder born in Costa Rica in 1754. We have mapped the gene for deafness in this kindred to chromosome 5q31, between the markers IL9 and GRL, by linkage analysis involving 99 informative relatives. |
| doi_str_mv | 10.1073/pnas.89.11.5181 |
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Genetically susceptible individuals begin to lose hearing at low frequencies at about age 10 years, after language and speaking are learned. Deafness inevitably progresses by age 30 years to bilateral hearing loss of all frequencies. Intelligence, fertility, and life expectancy are normal. The family traces its ancestry to an affected founder born in Costa Rica in 1754. We have mapped the gene for deafness in this kindred to chromosome 5q31, between the markers IL9 and GRL, by linkage analysis involving 99 informative relatives.</description><identifier>ISSN: 0027-8424</identifier><identifier>EISSN: 1091-6490</identifier><identifier>DOI: 10.1073/pnas.89.11.5181</identifier><identifier>PMID: 1350680</identifier><identifier>CODEN: PNASA6</identifier><language>eng</language><publisher>Washington, DC: National Academy of Sciences of the United States of America</publisher><subject>Base Sequence ; Biological and medical sciences ; chromosome 5 ; Chromosome Mapping ; Chromosomes ; Chromosomes, Human, Pair 5 ; Costa Rica ; Deafness ; Deafness - genetics ; Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology ; family studies ; gene mapping ; Genes ; Genes, Dominant ; Genetic inheritance ; Genetic loci ; Genetics ; Genotypes ; Hearing loss ; hereditary diseases ; Human genetics ; Humans ; man ; Medical genetics ; Medical sciences ; Molecular Sequence Data ; Non tumoral diseases ; Oligodeoxyribonucleotides - chemistry ; Otorhinolaryngology. Stomatology ; Pedigree ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Pure tone audiometry</subject><ispartof>Proceedings of the National Academy of Sciences - PNAS, 1992-06, Vol.89 (11), p.5181-5184</ispartof><rights>Copyright 1992 The National Academy of Sciences of the United States of America</rights><rights>1992 INIST-CNRS</rights><rights>Copyright National Academy of Sciences Jun 1, 1992</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c615t-fc99add4f982ca1667b38133e9d8e7f42bb15d7962f4ce505dea7b2d691d854a3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Uhttp://www.pnas.org/content/89/11.cover.gif</thumbnail><linktopdf>$$Uhttps://www.jstor.org/stable/pdf/2359612$$EPDF$$P50$$Gjstor$$H</linktopdf><linktohtml>$$Uhttps://www.jstor.org/stable/2359612$$EHTML$$P50$$Gjstor$$H</linktohtml><link.rule.ids>230,314,727,780,784,803,885,27924,27925,53791,53793,58017,58250</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=5372832$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1350680$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Leon, Pedro E.</creatorcontrib><creatorcontrib>Raventos, Henriette</creatorcontrib><creatorcontrib>Lynch, Eric</creatorcontrib><creatorcontrib>Morrow, Jan</creatorcontrib><creatorcontrib>King, Mary-Claire</creatorcontrib><title>The Gene for an Inherited Form of Deafness Maps to Chromosome 5q31</title><title>Proceedings of the National Academy of Sciences - PNAS</title><addtitle>Proc Natl Acad Sci U S A</addtitle><description>Primary-i.e., nonsyndromal-postlingual deafness is inherited as an autosomal dominant phenotype in a large kindred in Costa Rica. Genetically susceptible individuals begin to lose hearing at low frequencies at about age 10 years, after language and speaking are learned. Deafness inevitably progresses by age 30 years to bilateral hearing loss of all frequencies. Intelligence, fertility, and life expectancy are normal. The family traces its ancestry to an affected founder born in Costa Rica in 1754. We have mapped the gene for deafness in this kindred to chromosome 5q31, between the markers IL9 and GRL, by linkage analysis involving 99 informative relatives.</description><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>chromosome 5</subject><subject>Chromosome Mapping</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 5</subject><subject>Costa Rica</subject><subject>Deafness</subject><subject>Deafness - genetics</subject><subject>Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology</subject><subject>family studies</subject><subject>gene mapping</subject><subject>Genes</subject><subject>Genes, Dominant</subject><subject>Genetic inheritance</subject><subject>Genetic loci</subject><subject>Genetics</subject><subject>Genotypes</subject><subject>Hearing loss</subject><subject>hereditary diseases</subject><subject>Human genetics</subject><subject>Humans</subject><subject>man</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Molecular Sequence Data</subject><subject>Non tumoral diseases</subject><subject>Oligodeoxyribonucleotides - chemistry</subject><subject>Otorhinolaryngology. Stomatology</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Pure tone audiometry</subject><issn>0027-8424</issn><issn>1091-6490</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0U1v1DAQBmALgcpSOHMBZCEEp916_BVb6gUWWioVcSlny0nGbFZJvLUTBP-eRLsslAOcfHifGXs8hDwFtgJWiLNd7_PK2BXASoGBe2QBzMJSS8vukwVjvFgayeVD8ijnLWPMKsNOyAkIxbRhC_LuZoP0EnukISbqe3rVbzA1A9b0IqaOxkDfow895kw_-V2mQ6TrTYpdzLFDqm4FPCYPgm8zPjmcp-TLxYeb9cfl9efLq_Xb62WlQQ3LUFnr61oGa3jlQeuiFAaEQFsbLILkZQmqLqzmQVaomKrRFyWvtYXaKOnFKTnf992NZYd1hf2QfOt2qel8-uGib9zdpG827mv85qTlSkzlrw_lKd6OmAfXNbnCtvU9xjG7gtsCuOb_haA5SA0wwZd_wW0cUz_9geMMuGRc2Qmd7VGVYs4Jw_HBwNy8Qjev0BnrANy8wqni-Z9z_vb7nU35q0Puc-XbkHxfNfnIlCi4EfMYLw5s7v8rvXPPm38CF8a2HfD7MMlne7nNQ0xHyoWyGrj4CVOaxAw</recordid><startdate>19920601</startdate><enddate>19920601</enddate><creator>Leon, Pedro E.</creator><creator>Raventos, Henriette</creator><creator>Lynch, Eric</creator><creator>Morrow, Jan</creator><creator>King, Mary-Claire</creator><general>National Academy of Sciences of the United States of America</general><general>National Acad Sciences</general><general>National Academy of Sciences</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>7QG</scope><scope>7QL</scope><scope>7QP</scope><scope>7QR</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TK</scope><scope>7TM</scope><scope>7TO</scope><scope>7U9</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>H94</scope><scope>M7N</scope><scope>P64</scope><scope>RC3</scope><scope>7T3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19920601</creationdate><title>The Gene for an Inherited Form of Deafness Maps to Chromosome 5q31</title><author>Leon, Pedro E. ; Raventos, Henriette ; Lynch, Eric ; Morrow, Jan ; King, Mary-Claire</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c615t-fc99add4f982ca1667b38133e9d8e7f42bb15d7962f4ce505dea7b2d691d854a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1992</creationdate><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>chromosome 5</topic><topic>Chromosome Mapping</topic><topic>Chromosomes</topic><topic>Chromosomes, Human, Pair 5</topic><topic>Costa Rica</topic><topic>Deafness</topic><topic>Deafness - genetics</topic><topic>Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology</topic><topic>family studies</topic><topic>gene mapping</topic><topic>Genes</topic><topic>Genes, Dominant</topic><topic>Genetic inheritance</topic><topic>Genetic loci</topic><topic>Genetics</topic><topic>Genotypes</topic><topic>Hearing loss</topic><topic>hereditary diseases</topic><topic>Human genetics</topic><topic>Humans</topic><topic>man</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Molecular Sequence Data</topic><topic>Non tumoral diseases</topic><topic>Oligodeoxyribonucleotides - chemistry</topic><topic>Otorhinolaryngology. Stomatology</topic><topic>Pedigree</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Pure tone audiometry</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Leon, Pedro E.</creatorcontrib><creatorcontrib>Raventos, Henriette</creatorcontrib><creatorcontrib>Lynch, Eric</creatorcontrib><creatorcontrib>Morrow, Jan</creatorcontrib><creatorcontrib>King, Mary-Claire</creatorcontrib><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>Animal Behavior Abstracts</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Chemoreception Abstracts</collection><collection>Ecology Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>Human Genome Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Proceedings of the National Academy of Sciences - PNAS</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Leon, Pedro E.</au><au>Raventos, Henriette</au><au>Lynch, Eric</au><au>Morrow, Jan</au><au>King, Mary-Claire</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The Gene for an Inherited Form of Deafness Maps to Chromosome 5q31</atitle><jtitle>Proceedings of the National Academy of Sciences - PNAS</jtitle><addtitle>Proc Natl Acad Sci U S A</addtitle><date>1992-06-01</date><risdate>1992</risdate><volume>89</volume><issue>11</issue><spage>5181</spage><epage>5184</epage><pages>5181-5184</pages><issn>0027-8424</issn><eissn>1091-6490</eissn><coden>PNASA6</coden><abstract>Primary-i.e., nonsyndromal-postlingual deafness is inherited as an autosomal dominant phenotype in a large kindred in Costa Rica. 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| subjects | Base Sequence Biological and medical sciences chromosome 5 Chromosome Mapping Chromosomes Chromosomes, Human, Pair 5 Costa Rica Deafness Deafness - genetics Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology family studies gene mapping Genes Genes, Dominant Genetic inheritance Genetic loci Genetics Genotypes Hearing loss hereditary diseases Human genetics Humans man Medical genetics Medical sciences Molecular Sequence Data Non tumoral diseases Oligodeoxyribonucleotides - chemistry Otorhinolaryngology. Stomatology Pedigree Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Pure tone audiometry |
| title | The Gene for an Inherited Form of Deafness Maps to Chromosome 5q31 |
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