Association of a Novel Mutation in the Retinol Dehydrogenase 12 (RDH12) Gene With Autosomal Dominant Retinitis Pigmentosa
OBJECTIVE To identify the gene causing retinitis pigmentosa (RP) in an autosomal dominant pedigree. METHODS Family members with RP were studied with linkage analysis using single-nucleotide polymorphism and short tandem repeat polymorphic markers. Candidate genes in the linked region were evaluated...
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| Veröffentlicht in: | Archives of ophthalmology (1960) 2008-09, Vol.126 (9), p.1301-1307 |
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| container_title | Archives of ophthalmology (1960) |
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| creator | Fingert, John H Oh, Kean Chung, Mina Scheetz, Todd E Andorf, Jeaneen L Johnson, Rebecca M Sheffield, Val C Stone, Edwin M |
| description | OBJECTIVE To identify the gene causing retinitis pigmentosa (RP) in an autosomal dominant pedigree. METHODS Family members with RP were studied with linkage analysis using single-nucleotide polymorphism and short tandem repeat polymorphic markers. Candidate genes in the linked region were evaluated with DNA sequencing. RESULTS Nineteen family members had a mild form of RP. Multipoint linkage analysis of single-nucleotide polymorphism genotypes yielded a maximum nonparametric linkage score of 19.97 with markers located on chromosome 14q. LOD scores higher than 3.0 were obtained with 20 short tandem repeat polymorphic markers, and recombinants defined a 21.7-centimorgan locus on chromosome 14q. The retinol dehydrogenase 12 (RDH12) gene lies within this locus and was evaluated as a candidate gene. A frameshift mutation (776delG) was detected in all affected family members and was not detected in 158 control subjects. CONCLUSIONS Heterozygous mutations in RDH12can cause autosomal dominant RP with a late onset and relatively mild severity. This phenotype is dramatically different from the other disease associated with mutation in this gene, autosomal recessive Leber congenital amaurosis. CLINICAL RELEVANCE The demonstration that mutations in a gene previously associated with recessive Leber congenital amaurosis can also cause dominant RP illustrates the wide phenotypic variability of retinal degeneration genes.Arch Ophthalmol. 2008;126(9):1301-1307--> |
| doi_str_mv | 10.1001/archopht.126.9.1301 |
| format | Article |
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METHODS Family members with RP were studied with linkage analysis using single-nucleotide polymorphism and short tandem repeat polymorphic markers. Candidate genes in the linked region were evaluated with DNA sequencing. RESULTS Nineteen family members had a mild form of RP. Multipoint linkage analysis of single-nucleotide polymorphism genotypes yielded a maximum nonparametric linkage score of 19.97 with markers located on chromosome 14q. LOD scores higher than 3.0 were obtained with 20 short tandem repeat polymorphic markers, and recombinants defined a 21.7-centimorgan locus on chromosome 14q. The retinol dehydrogenase 12 (RDH12) gene lies within this locus and was evaluated as a candidate gene. A frameshift mutation (776delG) was detected in all affected family members and was not detected in 158 control subjects. CONCLUSIONS Heterozygous mutations in RDH12can cause autosomal dominant RP with a late onset and relatively mild severity. This phenotype is dramatically different from the other disease associated with mutation in this gene, autosomal recessive Leber congenital amaurosis. CLINICAL RELEVANCE The demonstration that mutations in a gene previously associated with recessive Leber congenital amaurosis can also cause dominant RP illustrates the wide phenotypic variability of retinal degeneration genes.Arch Ophthalmol. 2008;126(9):1301-1307--></description><identifier>ISSN: 0003-9950</identifier><identifier>ISSN: 2168-6165</identifier><identifier>EISSN: 1538-3601</identifier><identifier>EISSN: 2168-6173</identifier><identifier>DOI: 10.1001/archopht.126.9.1301</identifier><identifier>PMID: 18779497</identifier><language>eng</language><publisher>Chicago, IL: American Medical Association</publisher><subject>Adolescent ; Adult ; Alcohol Oxidoreductases - genetics ; Biological and medical sciences ; Child ; Chromosome Mapping ; Chromosomes, Human, Pair 14 - genetics ; Electroretinography ; Eye diseases ; Female ; Frameshift Mutation ; Genes, Dominant ; Genetic disorders ; Genotype ; Genotype & phenotype ; Humans ; Lod Score ; Male ; Medical sciences ; Miscellaneous ; Mutation ; Ophthalmology ; Pedigree ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Retinitis Pigmentosa - diagnosis ; Retinitis Pigmentosa - genetics ; Retinopathies ; Studies ; Visual Field Tests</subject><ispartof>Archives of ophthalmology (1960), 2008-09, Vol.126 (9), p.1301-1307</ispartof><rights>2008 INIST-CNRS</rights><rights>Copyright American Medical Association Sep 2008</rights><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-a423t-8323c63cd2567fc699617b4b296b9c9347572b029337fc50913d1dd6cbddf1693</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781,27905,27906</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=20631751$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18779497$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Fingert, John H</creatorcontrib><creatorcontrib>Oh, Kean</creatorcontrib><creatorcontrib>Chung, Mina</creatorcontrib><creatorcontrib>Scheetz, Todd E</creatorcontrib><creatorcontrib>Andorf, Jeaneen L</creatorcontrib><creatorcontrib>Johnson, Rebecca M</creatorcontrib><creatorcontrib>Sheffield, Val C</creatorcontrib><creatorcontrib>Stone, Edwin M</creatorcontrib><title>Association of a Novel Mutation in the Retinol Dehydrogenase 12 (RDH12) Gene With Autosomal Dominant Retinitis Pigmentosa</title><title>Archives of ophthalmology (1960)</title><addtitle>Arch Ophthalmol</addtitle><description>OBJECTIVE To identify the gene causing retinitis pigmentosa (RP) in an autosomal dominant pedigree. METHODS Family members with RP were studied with linkage analysis using single-nucleotide polymorphism and short tandem repeat polymorphic markers. Candidate genes in the linked region were evaluated with DNA sequencing. RESULTS Nineteen family members had a mild form of RP. Multipoint linkage analysis of single-nucleotide polymorphism genotypes yielded a maximum nonparametric linkage score of 19.97 with markers located on chromosome 14q. LOD scores higher than 3.0 were obtained with 20 short tandem repeat polymorphic markers, and recombinants defined a 21.7-centimorgan locus on chromosome 14q. The retinol dehydrogenase 12 (RDH12) gene lies within this locus and was evaluated as a candidate gene. A frameshift mutation (776delG) was detected in all affected family members and was not detected in 158 control subjects. CONCLUSIONS Heterozygous mutations in RDH12can cause autosomal dominant RP with a late onset and relatively mild severity. This phenotype is dramatically different from the other disease associated with mutation in this gene, autosomal recessive Leber congenital amaurosis. CLINICAL RELEVANCE The demonstration that mutations in a gene previously associated with recessive Leber congenital amaurosis can also cause dominant RP illustrates the wide phenotypic variability of retinal degeneration genes.Arch Ophthalmol. 2008;126(9):1301-1307--></description><subject>Adolescent</subject><subject>Adult</subject><subject>Alcohol Oxidoreductases - genetics</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 14 - genetics</subject><subject>Electroretinography</subject><subject>Eye diseases</subject><subject>Female</subject><subject>Frameshift Mutation</subject><subject>Genes, Dominant</subject><subject>Genetic disorders</subject><subject>Genotype</subject><subject>Genotype & phenotype</subject><subject>Humans</subject><subject>Lod Score</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Miscellaneous</subject><subject>Mutation</subject><subject>Ophthalmology</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Retinitis Pigmentosa - diagnosis</subject><subject>Retinitis Pigmentosa - genetics</subject><subject>Retinopathies</subject><subject>Studies</subject><subject>Visual Field Tests</subject><issn>0003-9950</issn><issn>2168-6165</issn><issn>1538-3601</issn><issn>2168-6173</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkV1rFDEUhoModq3-ABEkCIpezJqTTDKby6WtrVA_KIqXIZPJdFJmkjXJFPbfm2XWCpKLkJznfTnwIPQKyBoIgY86miHshrwGKtZyDYzAI7QCzjYVEwQeoxUhhFVScnKCnqV0V54CiHyKTmDTNLKWzQrttykF43R2wePQY42_hns74i9zXv6cx3mw-MZm58OIz-2w72K4tV4ni4Hi9zfnV0A_4EvrLf7l8oC3cw4pTLrAYXJe-7ykXXYJf3e3k_UF0M_Rk16Pyb443qfo56eLH2dX1fW3y89n2-tK15TlasMoM4KZjnLR9EZIKaBp65ZK0UojWd3whraESsbKmBMJrIOuE6btuh6EZKfo3dK7i-H3bFNWk0vGjqP2NsxJCckpJ-QAvvkPvAtz9GU3RRlIDuUUiC2QiSGlaHu1i27Sca-AqIMW9VeLKlqUVActJfX6WD23k-3-ZY4eCvD2COhk9NhH7Y1LDxwlgkHDD0UvF05P-mFaU7IhnP0BVxueZw</recordid><startdate>20080901</startdate><enddate>20080901</enddate><creator>Fingert, John H</creator><creator>Oh, Kean</creator><creator>Chung, Mina</creator><creator>Scheetz, Todd E</creator><creator>Andorf, Jeaneen L</creator><creator>Johnson, Rebecca M</creator><creator>Sheffield, Val C</creator><creator>Stone, Edwin M</creator><general>American Medical Association</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>7TK</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope></search><sort><creationdate>20080901</creationdate><title>Association of a Novel Mutation in the Retinol Dehydrogenase 12 (RDH12) Gene With Autosomal Dominant Retinitis Pigmentosa</title><author>Fingert, John H ; Oh, Kean ; Chung, Mina ; Scheetz, Todd E ; Andorf, Jeaneen L ; Johnson, Rebecca M ; Sheffield, Val C ; Stone, Edwin M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-a423t-8323c63cd2567fc699617b4b296b9c9347572b029337fc50913d1dd6cbddf1693</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Alcohol Oxidoreductases - genetics</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 14 - genetics</topic><topic>Electroretinography</topic><topic>Eye diseases</topic><topic>Female</topic><topic>Frameshift Mutation</topic><topic>Genes, Dominant</topic><topic>Genetic disorders</topic><topic>Genotype</topic><topic>Genotype & phenotype</topic><topic>Humans</topic><topic>Lod Score</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Miscellaneous</topic><topic>Mutation</topic><topic>Ophthalmology</topic><topic>Pedigree</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Retinitis Pigmentosa - diagnosis</topic><topic>Retinitis Pigmentosa - genetics</topic><topic>Retinopathies</topic><topic>Studies</topic><topic>Visual Field Tests</topic><toplevel>online_resources</toplevel><creatorcontrib>Fingert, John H</creatorcontrib><creatorcontrib>Oh, Kean</creatorcontrib><creatorcontrib>Chung, Mina</creatorcontrib><creatorcontrib>Scheetz, Todd E</creatorcontrib><creatorcontrib>Andorf, Jeaneen L</creatorcontrib><creatorcontrib>Johnson, Rebecca M</creatorcontrib><creatorcontrib>Sheffield, Val C</creatorcontrib><creatorcontrib>Stone, Edwin M</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>Neurosciences Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><jtitle>Archives of ophthalmology (1960)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Fingert, John H</au><au>Oh, Kean</au><au>Chung, Mina</au><au>Scheetz, Todd E</au><au>Andorf, Jeaneen L</au><au>Johnson, Rebecca M</au><au>Sheffield, Val C</au><au>Stone, Edwin M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association of a Novel Mutation in the Retinol Dehydrogenase 12 (RDH12) Gene With Autosomal Dominant Retinitis Pigmentosa</atitle><jtitle>Archives of ophthalmology (1960)</jtitle><addtitle>Arch Ophthalmol</addtitle><date>2008-09-01</date><risdate>2008</risdate><volume>126</volume><issue>9</issue><spage>1301</spage><epage>1307</epage><pages>1301-1307</pages><issn>0003-9950</issn><issn>2168-6165</issn><eissn>1538-3601</eissn><eissn>2168-6173</eissn><abstract>OBJECTIVE To identify the gene causing retinitis pigmentosa (RP) in an autosomal dominant pedigree. METHODS Family members with RP were studied with linkage analysis using single-nucleotide polymorphism and short tandem repeat polymorphic markers. Candidate genes in the linked region were evaluated with DNA sequencing. RESULTS Nineteen family members had a mild form of RP. Multipoint linkage analysis of single-nucleotide polymorphism genotypes yielded a maximum nonparametric linkage score of 19.97 with markers located on chromosome 14q. LOD scores higher than 3.0 were obtained with 20 short tandem repeat polymorphic markers, and recombinants defined a 21.7-centimorgan locus on chromosome 14q. The retinol dehydrogenase 12 (RDH12) gene lies within this locus and was evaluated as a candidate gene. A frameshift mutation (776delG) was detected in all affected family members and was not detected in 158 control subjects. CONCLUSIONS Heterozygous mutations in RDH12can cause autosomal dominant RP with a late onset and relatively mild severity. This phenotype is dramatically different from the other disease associated with mutation in this gene, autosomal recessive Leber congenital amaurosis. CLINICAL RELEVANCE The demonstration that mutations in a gene previously associated with recessive Leber congenital amaurosis can also cause dominant RP illustrates the wide phenotypic variability of retinal degeneration genes.Arch Ophthalmol. 2008;126(9):1301-1307--></abstract><cop>Chicago, IL</cop><pub>American Medical Association</pub><pmid>18779497</pmid><doi>10.1001/archopht.126.9.1301</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Adult Alcohol Oxidoreductases - genetics Biological and medical sciences Child Chromosome Mapping Chromosomes, Human, Pair 14 - genetics Electroretinography Eye diseases Female Frameshift Mutation Genes, Dominant Genetic disorders Genotype Genotype & phenotype Humans Lod Score Male Medical sciences Miscellaneous Mutation Ophthalmology Pedigree Polymerase Chain Reaction Polymorphism, Single Nucleotide Retinitis Pigmentosa - diagnosis Retinitis Pigmentosa - genetics Retinopathies Studies Visual Field Tests |
| title | Association of a Novel Mutation in the Retinol Dehydrogenase 12 (RDH12) Gene With Autosomal Dominant Retinitis Pigmentosa |
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