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X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.

Clinical and experimental nephrology - 1 Oct 2016

Fu Xue Jun, Nozu Kandai, Eguchi Aya, Nozu Yoshimi, Morisada Naoya, Shono Akemi, Taniguchi-Ikeda Mariko, Shima Yuko, Nakanishi Koichi, Vorechovsky Igor, Iijima Kazumoto

Abstract excerpt

BACKGROUND: X-linked Alport syndrome (XLAS) is a progressive hereditary nephropathy caused by mutations in the type IV collagen alpha chain 5 gene (COL4A5). Although many COL4A5 mutations have previously been identified, pathogenic synonymous mutations have not yet been described. METHODS: A family with XLAS underwent mutational analyses of COL4A5 by PCR and direct sequencing, as well as transcript analysis of...

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PMID: 26581810
DOI: 10.1007/s10157-015-1197-9

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