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Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity.
Pusch, C M; Maurer, J; Ramser, J; Tomiuk, J; Achatz, H; Pesch, K; Lichtner, P; Apfelstedt-Sylla, E; Jacobi, F K; Berger, W; Meindl, A; Wissinger, B.
Afiliación
  • Pusch CM; Molecular Genetics Laboratory, University Eye Hospital Tubingen, Auf der Morganstelle 15, 72076 Tubingen, Germany.
Int J Mol Med ; 7(2): 155-61, 2001 Feb.
Article en En | MEDLINE | ID: mdl-11172618
A number of distinct, partly non-overlapping genetic loci have been reported for the complete type of X-linked congenital stationary night blindness (CSNB1), suggesting genetic heterogeneity. In order to refine the localization of the CSNB1 gene and to demonstrate genetic homogeneity, linkage analysis was performed in two large CSNB1 families. Clinical features consistent with the diagnosis of CSNB1 were documented in five patients from a German seven-generation kindred by full ophthalmological examination including psychophysical and electroretinographical testing. Haplotype analysis in 30 members of the large German family was performed with 38 polymorphic markers predominantly covering the critical region. Linkage analyses defined a locus for CSNB1 with flanking markers DXS8042 and DXS228, refining the interval to 2.5 cM in Xp11.4. In addition, two-point linkage analysis was carried out using the MLINK computer program. In agreement with meiotic breakpoints, lod scores of 3.0 and greater were obtained for markers located to the proximal site of the former 5 cM CSNB consensus interval. A large Dutch CSNB1 family was re-evaluated with markers from the Xp11.4 region, and supports the CSNB1 minimal interval found in the German family. Together with previous results from three unrelated families from Sweden, Sardinia and Great Britain, our results provide evidence of genetic homogeneity in the disorder. Subsequent mutation analyses in CSNB1 patients revealed no pathogenic sequence alterations in DFFRX and CASK genes, but retain candidates for other diseases mapping to that region.
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromosoma X / Ceguera Nocturna / Ligamiento Genético Límite: Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Int J Mol Med Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2001 Tipo del documento: Article País de afiliación: Alemania
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromosoma X / Ceguera Nocturna / Ligamiento Genético Límite: Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Int J Mol Med Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2001 Tipo del documento: Article País de afiliación: Alemania
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