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      Alport Syndrome in Réunion Island: Phenotypic Heterogeneity of the Recessive-Autosomal Form

      a , b , c , d

      Nephron

      S. Karger AG

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          Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.

          Alport syndrome (AS) is an hereditary disease of basement membranes characterized by progressive renal failure and deafness. Changes in the glomerular basement membrane (GBM) in AS suggest that the type IV collagen matrix, the major structural component of GBM, is disrupted. We recently isolated the genes for two type IV collagens, alpha 3(IV) and alpha 4(IV), that are encoded head-to-head on human chromosome 2. These chains are abundant in normal GBM but are sometimes absent in AS. We screened for mutations in families in which consanguinity suggested autosomal recessive inheritance. Homozygous mutations were found in alpha 3(IV) in two families and in alpha 4(IV) in two others, demonstrating that these chains are important in the structural integrity of the GBM and that there is an autosomal form of AS in addition to the previously-defined X-linked form.
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            Author and article information

            Journal
            NEF
            Nephron
            10.1159/issn.1660-8151
            Nephron
            S. Karger AG
            1660-8151
            2235-3186
            1998
            June 1998
            27 May 1998
            : 79
            : 2
            : 237
            Affiliations
            aService de Néphrologie-Dialyse,Centre hospitalier général de Saint-Pierre, Réunion, b Réseau de recherche INSERM sur les pathologies héréditaires à la Réunion, Laboratoire de génétique, Centre hospitalier départemental Félix-Guyon, Saint-Denis, Réunion, c AURAR, Association pour l’utilisation du rein à domicile à la Réunion, et d Service de Néphrologie, Centre hospitalier départemental Félix-Guyon, Saint-Denis, Réunion, France
            Article
            45039 Nephron 1998;79:237
            10.1159/000045039
            9647515
            © 1998 S. Karger AG, Basel

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            Page count
            References: 5, Pages: 1
            Product
            Self URI (application/pdf): https://www.karger.com/Article/Pdf/45039
            Categories
            Letter to the Editor

            Cardiovascular Medicine, Nephrology

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