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10.1186/s12882-017-0735-y http://scihub22266oqcxt.onion/10.1186/s12882-017-0735-y C5664579!5664579 !29089023     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=29089023 &cmd=llinks): Failed to open stream: HTTP request failed! 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Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene |pdf=|usr=}}{{29089023 }} gab.com Text Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene JO: BMC Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=29089023 #FOAvip BACKGROUND: Alport syndrome is an inherited renal disorder characterized by glomerular basement membrane lesions with hematuria, proteinuria and frequent hearing defects and ocular abnormalities. The disease is associated with mutations in genes encoding ?3, ?4, or ?5 chains of type IV collagen, namely COL4A3 and COL4A4 in chromosome 2 and COL4A5 in chromosome X. In contrast to the well-known X-linked and autosomal recessive phenotypes, there is very little information about the autosomal dominant. In view of the wide spectrum of phenotypes, an exact diagnosis is sometimes difficult to achieve. METHODS: We investigated a Spanish family with variable phenotype of autosomal dominant Alport syndrome using clinical, histological, and genetic analysis. RESULTS: Mutational analysis of COL4A3 and COL4A4 genes showed a novel heterozygous mutation (c. 998G > A; p.G333E) in exon 18 of the COL4A3 gene. Among relatives carrying the novel mutation, the clinical phenotype was variable. Two additional COL4A3 mutations were found, a Pro-Leu substitution in exon 48 (p.P1461L) and a Ser-Cys substitution in exon 49 (p.S1492C), non-pathogenics alone. CONCLUSION: Carriers of p.G333E and p.P1461L or p.S1492C mutations in COL4A3 gene appear to be more severely affected than carriers of only p.G333E mutation, and the clinical findings has an earlier onset. In this way, we could speculate on a synergistic effect of compound heterozygosity that could explain the different phenotype observed in this family. Twit Text FOAVip Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene ????BMC Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=29089023 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29089023 #FOAvip English Wikipedia <ref>{{Cite pmid|29089023 }}</ref> Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene #MMPMID29089023 Cervera-Acedo C ; Coloma A ; Huarte-Loza E ; Sierra-Carpio M ; Domínguez-Garrido E BMC Nephrol 2017[Oct]; 18 (1 ): 325 PMID29089023 show ga BACKGROUND: Alport syndrome is an inherited renal disorder characterized by glomerular basement membrane lesions with hematuria, proteinuria and frequent hearing defects and ocular abnormalities. The disease is associated with mutations in genes encoding ?3, ?4, or ?5 chains of type IV collagen, namely COL4A3 and COL4A4 in chromosome 2 and COL4A5 in chromosome X. In contrast to the well-known X-linked and autosomal recessive phenotypes, there is very little information about the autosomal dominant. In view of the wide spectrum of phenotypes, an exact diagnosis is sometimes difficult to achieve. METHODS: We investigated a Spanish family with variable phenotype of autosomal dominant Alport syndrome using clinical, histological, and genetic analysis. RESULTS: Mutational analysis of COL4A3 and COL4A4 genes showed a novel heterozygous mutation (c. 998G > A; p.G333E) in exon 18 of the COL4A3 gene. Among relatives carrying the novel mutation, the clinical phenotype was variable. Two additional COL4A3 mutations were found, a Pro-Leu substitution in exon 48 (p.P1461L) and a Ser-Cys substitution in exon 49 (p.S1492C), non-pathogenics alone. CONCLUSION: Carriers of p.G333E and p.P1461L or p.S1492C mutations in COL4A3 gene appear to be more severely affected than carriers of only p.G333E mutation, and the clinical findings has an earlier onset. In this way, we could speculate on a synergistic effect of compound heterozygosity that could explain the different phenotype observed in this family. |*Phenotype [MESH] |Adult [MESH] |Aged [MESH] |Autoantigens/*genetics [MESH] |Collagen Type IV/*genetics [MESH] |Female [MESH] |Genetic Variation/*genetics [MESH] |Humans [MESH] |Male [MESH] |Middle Aged [MESH] |Mutation/*genetics [MESH] |Nephritis, Hereditary/diagnosis/*genetics [MESH] |Pedigree [MESH]Phenotype variability in a large Spanish family with Alport syndrome a(epmc).pdf DeepDyve Pubget Overpricing