Etude clinique et analyse de liaison au locus 3q28 de deux familles suisses avec atrophie optique dominante de Kjer (OPA1) [Clinical study and genetic 3q28 locus linkage in 2 Swiss families with Kjer dominant optic atrophy (OPA1)]

Détails

ID Serval
serval:BIB_CAFB6D6B86CC
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Etude clinique et analyse de liaison au locus 3q28 de deux familles suisses avec atrophie optique dominante de Kjer (OPA1) [Clinical study and genetic 3q28 locus linkage in 2 Swiss families with Kjer dominant optic atrophy (OPA1)]
Périodique
Klinische Monatsblätter für Augenheilkunde
Auteur(s)
Lefèvre A., Hiroz C., Zografos L., Schorderet D.F., Munier F.L.
ISSN
0023-2165
Statut éditorial
Publié
Date de publication
1998
Peer-reviewed
Oui
Volume
212
Numéro
5
Pages
301-4
Langue
français
Notes
Publication types: English Abstract ; Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Résumé
METHODS: We examined 20 patients from 2 unrelated Swiss families to describe their clinical phenotype. In addition, a linkage analysis was performed in an attempt to confirm the reported genetic homogeneity of this condition as well as to refine its genomic localization. RESULTS: Two point analysis provided a cumulative LOD-score of 3.03 with marker D3S 2305. The absence of recombination precluded further refinement of the disease interval. CONCLUSIONS: Our data confirm the genetic homogeneity and the extreme variability of expression, occasionally mimicking low tension glaucoma.
Mots-clé
Adolescent, Adult, Child, Chromosome Aberrations, Chromosome Disorders, Chromosome Mapping, Chromosomes, Human, Pair 3, Female, Genes, Dominant, Genetic Markers, Humans, Linkage (Genetics), Male, Middle Aged, Optic Atrophies, Hereditary, Pedigree, Phenotype
Pubmed
Web of science
Création de la notice
28/01/2008 12:59
Dernière modification de la notice
20/08/2019 15:45
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