Novel heterozygous COL4A3 mutation in a family with late-onset ESRD |
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Authors: | Julia Hoefele Bärbel Lange-Sperandio Despina Ruessmann Judith Glöckner-Pagel Martin Alberer Marcus R Benz Mato Nagel Lutz T Weber |
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Institution: | (1) Pediatric Nephrology, Dr. von Haunersches Kinderspital, University Children’s Hospital, Ludwig-Maximilian’s University, Lindwurmstrasse 4, 80337 Munich, Germany;(2) Laboratory for Molecular Diagnostics, Center for Nephrology and Metabolic Disorders, Weisswasser, Germany |
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Abstract: | Thin basement membrane nephropathy (TBMN) and Alport syndrome (ATS) are genetically heterogeneous conditions characterized
by structural abnormalities in the glomerular basement membrane (GBM). TBMN presents with hematuria, minimal proteinuria,
and normal renal function. Although TBMN is an autosomal dominant disease (COL4A3 and COL4A4), ATS can be inherited X-linked (COL4A5), autosomal recessive, or autosomal dominant (both COL4A3 and COL4A4). The clinical course of TBMN is usually benign, whereas ATS typically results in end-stage renal disease (ESRD). Nevertheless,
there is a broad spectrum of clinical phenotypes caused by mutations in COL4A3 or COL4A4. We report an Italian family who presented with hematuria and mild proteinuria. Mutational analysis showed a novel heterozygous
mutation p.G291E in exon 15 of the COL4A3 gene. Many different mutations in COL4A3 and COL4A4 that cause TBMN have already been identified, but most genetic variability in these genes has been found to cause autosomal
ATS. A valid genotype–phenotype correlation for TBMN or ATS is not yet known. Therefore, it is important to identify new mutations
by direct sequencing to clarify their clinical importance, to assess the prognosis of the disease, and to avoid renal biopsy. |
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