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The genetics of cornea plana congenita

Cornea plana congenita is believed to occur in a mild autosomal dominant (CNA1) and a more severe autosomal recessive (CNA2) form. We recently assigned a CNA2 locus to a region on chromosome 12 by linkage analysis. In this study we compared these traits clinically and genetically. Using the horizont... Full description

Journal Title: Journal of medical genetics 1996, Vol.33 (2), p.116-119
Main Author: Tahvanainen, E
Other Authors: Forsius, H , Kolehmainen, J , Damsten, M , Fellman, J , de la Chapelle, A
Format: Electronic Article Electronic Article
Language: English
Subjects:
Quelle: Alma/SFX Local Collection
Publisher: London: BMJ Publishing Group Ltd
ID: ISSN: 0022-2593
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recordid: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1051836
title: The genetics of cornea plana congenita
format: Article
creator:
  • Tahvanainen, E
  • Forsius, H
  • Kolehmainen, J
  • Damsten, M
  • Fellman, J
  • de la Chapelle, A
subjects:
  • Adolescent
  • Adult
  • Aged
  • Biological and medical sciences
  • Child
  • Chromosomes, Human, Pair 12 - genetics
  • Cornea - abnormalities
  • Diseases of cornea, anterior segment and sclera
  • Eye Abnormalities - genetics
  • eye diseases
  • Female
  • Finland - epidemiology
  • Genes, Dominant
  • Genes, Recessive
  • Genetic Heterogeneity
  • Genetic Linkage
  • Haplotypes - genetics
  • Humans
  • Male
  • Mass Screening
  • Medical sciences
  • Middle Aged
  • Ophthalmology
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Refractometry
  • Research Article
ispartof: Journal of medical genetics, 1996, Vol.33 (2), p.116-119
description: Cornea plana congenita is believed to occur in a mild autosomal dominant (CNA1) and a more severe autosomal recessive (CNA2) form. We recently assigned a CNA2 locus to a region on chromosome 12 by linkage analysis. In this study we compared these traits clinically and genetically. Using the horizontal corneal refraction value in diopters (D) as a parameter, a control population (n = 473) had a mean value of 43 center dot 4 (SD 1 center dot 5 D) for men and 43 center dot 7 (SD 1 center dot 6 D) for women, whereas in 51 subjects affected with CNA2 the mean value was 29 center dot 9 (SD 5 center dot 2 D) and in five subjects affected with CNA1 the mean value was 37 center dot 8 (SD 1 center dot 6 D). By linkage analysis in two CNA1 families the CNA2 locus could be conclusively excluded. These data suggest that at least two forms of hereditary cornea plana exist which are both clinically and genetically distinct.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0022-2593
fulltext: fulltext
issn:
  • 0022-2593
  • 1468-6244
  • 1468-6244
url: Link


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descriptionCornea plana congenita is believed to occur in a mild autosomal dominant (CNA1) and a more severe autosomal recessive (CNA2) form. We recently assigned a CNA2 locus to a region on chromosome 12 by linkage analysis. In this study we compared these traits clinically and genetically. Using the horizontal corneal refraction value in diopters (D) as a parameter, a control population (n = 473) had a mean value of 43 center dot 4 (SD 1 center dot 5 D) for men and 43 center dot 7 (SD 1 center dot 6 D) for women, whereas in 51 subjects affected with CNA2 the mean value was 29 center dot 9 (SD 5 center dot 2 D) and in five subjects affected with CNA1 the mean value was 37 center dot 8 (SD 1 center dot 6 D). By linkage analysis in two CNA1 families the CNA2 locus could be conclusively excluded. These data suggest that at least two forms of hereditary cornea plana exist which are both clinically and genetically distinct.
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subjectAdolescent ; Adult ; Aged ; Biological and medical sciences ; Child ; Chromosomes, Human, Pair 12 - genetics ; Cornea - abnormalities ; Diseases of cornea, anterior segment and sclera ; Eye Abnormalities - genetics ; eye diseases ; Female ; Finland - epidemiology ; Genes, Dominant ; Genes, Recessive ; Genetic Heterogeneity ; Genetic Linkage ; Haplotypes - genetics ; Humans ; Male ; Mass Screening ; Medical sciences ; Middle Aged ; Ophthalmology ; Pedigree ; Polymorphism, Restriction Fragment Length ; Refractometry ; Research Article
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13Genes, Recessive
14Genetic Heterogeneity
15Genetic Linkage
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19Mass Screening
20Medical sciences
21Middle Aged
22Ophthalmology
23Pedigree
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abstractCornea plana congenita is believed to occur in a mild autosomal dominant (CNA1) and a more severe autosomal recessive (CNA2) form. We recently assigned a CNA2 locus to a region on chromosome 12 by linkage analysis. In this study we compared these traits clinically and genetically. Using the horizontal corneal refraction value in diopters (D) as a parameter, a control population (n = 473) had a mean value of 43 center dot 4 (SD 1 center dot 5 D) for men and 43 center dot 7 (SD 1 center dot 6 D) for women, whereas in 51 subjects affected with CNA2 the mean value was 29 center dot 9 (SD 5 center dot 2 D) and in five subjects affected with CNA1 the mean value was 37 center dot 8 (SD 1 center dot 6 D). By linkage analysis in two CNA1 families the CNA2 locus could be conclusively excluded. These data suggest that at least two forms of hereditary cornea plana exist which are both clinically and genetically distinct.
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