Genetic Heterogeneity of Dominant Optic Atrophy, Kjer Type: Identification of a Second Locus on Chromosome 18q12.2-12.3
OBJECTIVE To evaluate a family with autosomal dominant optic atrophy, which has been previously linked to the Kidd blood group. DESIGN Clinical evaluation with the assessment of visual acuity, color vision, and optic nerve appearance to determine affection status. Linkage analysis using polymorphic...
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| Veröffentlicht in: | Archives of ophthalmology (1960) 1999-06, Vol.117 (6), p.805-810 |
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| container_title | Archives of ophthalmology (1960) |
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| creator | Kerrison, John B Arnould, Veronique J Ferraz Sallum, Juliana M Vagefi, M. Reza Barmada, M. Michael Li, Yingying Zhu, Danping Maumenee, Irene H |
| description | OBJECTIVE To evaluate a family with autosomal dominant optic atrophy, which has been previously linked to the Kidd blood group. DESIGN Clinical evaluation with the assessment of visual acuity, color vision, and optic nerve appearance to determine affection status. Linkage analysis using polymorphic DNA markers. RESULTS Visual acuities ranged from 20/20 to 6/200. Although linkage was excluded for chromosome 3q28-29, markers from chromosome 18 in the vicinity of the Kidd locus were linked to the disorder (D18S34[maximal lod score (lodmax) of 5.38 at recombination fraction (θ) of 0.14], D18S548 [lodmax=7.26, θ=0.09], D18S861[lodmax=5.32, θ=0.07], and D18S479 [lodmax=3.28, θ=0.12: ]). Multipoint linkage analysis demonstrated lod scores of greater than 3 in an approximately 3-centimorgan region flanked by D18S34 and D18S479, using 98% penetrance and a phenocopy rate of 1/50. CONCLUSIONS Dominant optic atrophy is genetically heterogeneous, with loci assigned to chromosomes 3q28-29 and 18q12.2-12.3. Dominant optic atrophy linked to 18q shows intrafamilial variation similar to that previously reported in families linked to 3q, with visual acuities ranging from normal to legal blindness. The overall distribution of visual acuities appears more favorable with the 18q phenotype. Both phenotypes appear to have a similar rate of visual decline.Arch Ophthalmol. 1999;117:805-810--> |
| doi_str_mv | 10.1001/archopht.117.6.805 |
| format | Article |
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Reza ; Barmada, M. Michael ; Li, Yingying ; Zhu, Danping ; Maumenee, Irene H</creator><creatorcontrib>Kerrison, John B ; Arnould, Veronique J ; Ferraz Sallum, Juliana M ; Vagefi, M. Reza ; Barmada, M. Michael ; Li, Yingying ; Zhu, Danping ; Maumenee, Irene H</creatorcontrib><description>OBJECTIVE To evaluate a family with autosomal dominant optic atrophy, which has been previously linked to the Kidd blood group. DESIGN Clinical evaluation with the assessment of visual acuity, color vision, and optic nerve appearance to determine affection status. Linkage analysis using polymorphic DNA markers. RESULTS Visual acuities ranged from 20/20 to 6/200. Although linkage was excluded for chromosome 3q28-29, markers from chromosome 18 in the vicinity of the Kidd locus were linked to the disorder (D18S34[maximal lod score (lodmax) of 5.38 at recombination fraction (θ) of 0.14], D18S548 [lodmax=7.26, θ=0.09], D18S861[lodmax=5.32, θ=0.07], and D18S479 [lodmax=3.28, θ=0.12: ]). Multipoint linkage analysis demonstrated lod scores of greater than 3 in an approximately 3-centimorgan region flanked by D18S34 and D18S479, using 98% penetrance and a phenocopy rate of 1/50. CONCLUSIONS Dominant optic atrophy is genetically heterogeneous, with loci assigned to chromosomes 3q28-29 and 18q12.2-12.3. Dominant optic atrophy linked to 18q shows intrafamilial variation similar to that previously reported in families linked to 3q, with visual acuities ranging from normal to legal blindness. The overall distribution of visual acuities appears more favorable with the 18q phenotype. Both phenotypes appear to have a similar rate of visual decline.Arch Ophthalmol. 1999;117:805-810--></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.117.6.805</identifier><identifier>PMID: 10369594</identifier><language>eng</language><publisher>Chicago, IL: American Medical Association</publisher><subject>Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biological and medical sciences ; Child ; Chromosomes, Human, Pair 18 - genetics ; Chromosomes, Human, Pair 3 - genetics ; Color Perception - physiology ; DNA - analysis ; Female ; Genetic Heterogeneity ; Genetic Linkage - genetics ; Genetic Markers ; Genotype ; Humans ; Kidd Blood-Group System - genetics ; Lod Score ; Male ; Medical sciences ; Middle Aged ; Ophthalmology ; Optic Atrophies, Hereditary - genetics ; Optic Atrophies, Hereditary - pathology ; Optic Atrophies, Hereditary - physiopathology ; Optic Nerve - pathology ; Pedigree ; Retinopathies ; Visual Acuity - physiology</subject><ispartof>Archives of ophthalmology (1960), 1999-06, Vol.117 (6), p.805-810</ispartof><rights>1999 INIST-CNRS</rights><rights>Copyright American Medical Association Jun 1999</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1848084$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10369594$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kerrison, John B</creatorcontrib><creatorcontrib>Arnould, Veronique J</creatorcontrib><creatorcontrib>Ferraz Sallum, Juliana M</creatorcontrib><creatorcontrib>Vagefi, M. Reza</creatorcontrib><creatorcontrib>Barmada, M. Michael</creatorcontrib><creatorcontrib>Li, Yingying</creatorcontrib><creatorcontrib>Zhu, Danping</creatorcontrib><creatorcontrib>Maumenee, Irene H</creatorcontrib><title>Genetic Heterogeneity of Dominant Optic Atrophy, Kjer Type: Identification of a Second Locus on Chromosome 18q12.2-12.3</title><title>Archives of ophthalmology (1960)</title><addtitle>Arch Ophthalmol</addtitle><description>OBJECTIVE To evaluate a family with autosomal dominant optic atrophy, which has been previously linked to the Kidd blood group. DESIGN Clinical evaluation with the assessment of visual acuity, color vision, and optic nerve appearance to determine affection status. Linkage analysis using polymorphic DNA markers. RESULTS Visual acuities ranged from 20/20 to 6/200. Although linkage was excluded for chromosome 3q28-29, markers from chromosome 18 in the vicinity of the Kidd locus were linked to the disorder (D18S34[maximal lod score (lodmax) of 5.38 at recombination fraction (θ) of 0.14], D18S548 [lodmax=7.26, θ=0.09], D18S861[lodmax=5.32, θ=0.07], and D18S479 [lodmax=3.28, θ=0.12: ]). Multipoint linkage analysis demonstrated lod scores of greater than 3 in an approximately 3-centimorgan region flanked by D18S34 and D18S479, using 98% penetrance and a phenocopy rate of 1/50. CONCLUSIONS Dominant optic atrophy is genetically heterogeneous, with loci assigned to chromosomes 3q28-29 and 18q12.2-12.3. Dominant optic atrophy linked to 18q shows intrafamilial variation similar to that previously reported in families linked to 3q, with visual acuities ranging from normal to legal blindness. The overall distribution of visual acuities appears more favorable with the 18q phenotype. Both phenotypes appear to have a similar rate of visual decline.Arch Ophthalmol. 1999;117:805-810--></description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Chromosomes, Human, Pair 18 - genetics</subject><subject>Chromosomes, Human, Pair 3 - genetics</subject><subject>Color Perception - physiology</subject><subject>DNA - analysis</subject><subject>Female</subject><subject>Genetic Heterogeneity</subject><subject>Genetic Linkage - genetics</subject><subject>Genetic Markers</subject><subject>Genotype</subject><subject>Humans</subject><subject>Kidd Blood-Group System - genetics</subject><subject>Lod Score</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Ophthalmology</subject><subject>Optic Atrophies, Hereditary - genetics</subject><subject>Optic Atrophies, Hereditary - pathology</subject><subject>Optic Atrophies, Hereditary - physiopathology</subject><subject>Optic Nerve - pathology</subject><subject>Pedigree</subject><subject>Retinopathies</subject><subject>Visual Acuity - physiology</subject><issn>0003-9950</issn><issn>2168-6165</issn><issn>1538-3601</issn><issn>2168-6173</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkU1vEzEQhi0EomnhB8ABWajixC7jj93a3KoAbUWkHihny-sdk42y69T2CuXf4yjhQ1xmNJ7nndfSS8hrBjUDYB9sdOuwW-easau6rRU0T8iCNUJVogX2lCwAQFRaN3BGzlPalLFloJ-TMwai1Y2WC_LzBifMg6O3mDGGH2Ua8p4GTz-FcZjslOn97rC_zrF47d_TrxuM9GG_w4_0rscpD35wNg9hOogs_YYuTD1dBTcnWh6X6xjGkMKIlKlHxmtelSJekGfebhO-PPUL8v3L54flbbW6v7lbXq8qK7jMlQN0rfOO-07LhinsOy-47QGhYcgaCVwryzxXvG-c7J3tbC-F5r3vOocoLsi7491dDI8zpmzGITncbu2EYU6m1YpdKQ0FfPsfuAlznMrfDBdMF2-pCsSPkIshpYje7OIw2rg3DMwhE_M7E1MyMa0pmRTRm9PluRux_0dyDKEAlyfAJme3PtrJDekvV5xBHbBXR8yO9s9SMg5Sil-VCJ5R</recordid><startdate>19990601</startdate><enddate>19990601</enddate><creator>Kerrison, John B</creator><creator>Arnould, Veronique J</creator><creator>Ferraz Sallum, Juliana M</creator><creator>Vagefi, M. Reza</creator><creator>Barmada, M. Michael</creator><creator>Li, Yingying</creator><creator>Zhu, Danping</creator><creator>Maumenee, Irene H</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>19990601</creationdate><title>Genetic Heterogeneity of Dominant Optic Atrophy, Kjer Type: Identification of a Second Locus on Chromosome 18q12.2-12.3</title><author>Kerrison, John B ; Arnould, Veronique J ; Ferraz Sallum, Juliana M ; Vagefi, M. Reza ; Barmada, M. Michael ; Li, Yingying ; Zhu, Danping ; Maumenee, Irene H</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-a324t-c0ec6cfc2fb94518edbf32ad0e051e1540298a1f282d5c4dcabad4392dfbbcee3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Chromosomes, Human, Pair 18 - genetics</topic><topic>Chromosomes, Human, Pair 3 - genetics</topic><topic>Color Perception - physiology</topic><topic>DNA - analysis</topic><topic>Female</topic><topic>Genetic Heterogeneity</topic><topic>Genetic Linkage - genetics</topic><topic>Genetic Markers</topic><topic>Genotype</topic><topic>Humans</topic><topic>Kidd Blood-Group System - genetics</topic><topic>Lod Score</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Ophthalmology</topic><topic>Optic Atrophies, Hereditary - genetics</topic><topic>Optic Atrophies, Hereditary - pathology</topic><topic>Optic Atrophies, Hereditary - physiopathology</topic><topic>Optic Nerve - pathology</topic><topic>Pedigree</topic><topic>Retinopathies</topic><topic>Visual Acuity - physiology</topic><toplevel>online_resources</toplevel><creatorcontrib>Kerrison, John B</creatorcontrib><creatorcontrib>Arnould, Veronique J</creatorcontrib><creatorcontrib>Ferraz Sallum, Juliana M</creatorcontrib><creatorcontrib>Vagefi, M. Reza</creatorcontrib><creatorcontrib>Barmada, M. Michael</creatorcontrib><creatorcontrib>Li, Yingying</creatorcontrib><creatorcontrib>Zhu, Danping</creatorcontrib><creatorcontrib>Maumenee, Irene H</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>Kerrison, John B</au><au>Arnould, Veronique J</au><au>Ferraz Sallum, Juliana M</au><au>Vagefi, M. Reza</au><au>Barmada, M. Michael</au><au>Li, Yingying</au><au>Zhu, Danping</au><au>Maumenee, Irene H</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic Heterogeneity of Dominant Optic Atrophy, Kjer Type: Identification of a Second Locus on Chromosome 18q12.2-12.3</atitle><jtitle>Archives of ophthalmology (1960)</jtitle><addtitle>Arch Ophthalmol</addtitle><date>1999-06-01</date><risdate>1999</risdate><volume>117</volume><issue>6</issue><spage>805</spage><epage>810</epage><pages>805-810</pages><issn>0003-9950</issn><issn>2168-6165</issn><eissn>1538-3601</eissn><eissn>2168-6173</eissn><abstract>OBJECTIVE To evaluate a family with autosomal dominant optic atrophy, which has been previously linked to the Kidd blood group. DESIGN Clinical evaluation with the assessment of visual acuity, color vision, and optic nerve appearance to determine affection status. Linkage analysis using polymorphic DNA markers. RESULTS Visual acuities ranged from 20/20 to 6/200. Although linkage was excluded for chromosome 3q28-29, markers from chromosome 18 in the vicinity of the Kidd locus were linked to the disorder (D18S34[maximal lod score (lodmax) of 5.38 at recombination fraction (θ) of 0.14], D18S548 [lodmax=7.26, θ=0.09], D18S861[lodmax=5.32, θ=0.07], and D18S479 [lodmax=3.28, θ=0.12: ]). Multipoint linkage analysis demonstrated lod scores of greater than 3 in an approximately 3-centimorgan region flanked by D18S34 and D18S479, using 98% penetrance and a phenocopy rate of 1/50. CONCLUSIONS Dominant optic atrophy is genetically heterogeneous, with loci assigned to chromosomes 3q28-29 and 18q12.2-12.3. Dominant optic atrophy linked to 18q shows intrafamilial variation similar to that previously reported in families linked to 3q, with visual acuities ranging from normal to legal blindness. The overall distribution of visual acuities appears more favorable with the 18q phenotype. Both phenotypes appear to have a similar rate of visual decline.Arch Ophthalmol. 1999;117:805-810--></abstract><cop>Chicago, IL</cop><pub>American Medical Association</pub><pmid>10369594</pmid><doi>10.1001/archopht.117.6.805</doi><tpages>6</tpages></addata></record> |
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| subjects | Adolescent Adult Aged Aged, 80 and over Biological and medical sciences Child Chromosomes, Human, Pair 18 - genetics Chromosomes, Human, Pair 3 - genetics Color Perception - physiology DNA - analysis Female Genetic Heterogeneity Genetic Linkage - genetics Genetic Markers Genotype Humans Kidd Blood-Group System - genetics Lod Score Male Medical sciences Middle Aged Ophthalmology Optic Atrophies, Hereditary - genetics Optic Atrophies, Hereditary - pathology Optic Atrophies, Hereditary - physiopathology Optic Nerve - pathology Pedigree Retinopathies Visual Acuity - physiology |
| title | Genetic Heterogeneity of Dominant Optic Atrophy, Kjer Type: Identification of a Second Locus on Chromosome 18q12.2-12.3 |
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