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10.1681/ASN.2013080912 http://scihub22266oqcxt.onion/10.1681/ASN.2013080912 C4243343!4243343 !24854265     free     free     free Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\24854265 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       J+Am+Soc+Nephrol 2014 ; 25 (12 ): 2740-51 Nephropedia Template TP {{tp|p=24854265 |t=2014. Improving mutation screening in familial hematuric nephropathies through next generation sequencing |pdf=|usr=}}{{24854265 }} gab.com Text Improving mutation screening in familial hematuric nephropathies through next generation sequencing JO: J Am Soc Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=24854265 #FOAvip Alport syndrome is an inherited nephropathy associated with mutations in genes encoding type IV collagen chains present in the glomerular basement membrane. COL4A5 mutations are associated with the major X-linked form of the disease, and COL4A3 and COL4A4 mutations are associated with autosomal recessive and dominant forms (thought to be involved in 15% and 1%-5% of the families, respectively) and benign familial hematuria. Mutation screening of these three large genes is time-consuming and expensive. Here, we carried out a combination of multiplex PCR, amplicon quantification, and next generation sequencing (NGS) analysis of three genes in 101 unrelated patients. We identified 88 mutations and 6 variations of unknown significance on 116 alleles in 83 patients. Two additional indel mutations were found only by secondary Sanger sequencing, but they were easily identified retrospectively with the web-based sequence visualization tool Integrative Genomics Viewer. Altogether, 75 mutations were novel. Sequencing the three genes simultaneously was particularly advantageous as the mode of inheritance could not be determined with certainty in many instances. The proportion of mutations in COL4A3 and COL4A4 was notably high, and the autosomal dominant forms of Alport syndrome appear more frequently than reported previously. Finally, this approach allowed the identification of large COL4A3 and COL4A4 rearrangements not described previously. We conclude that NGS is efficient, reduces screening time and cost, and facilitates the provision of appropriate genetic counseling in Alport syndrome. Twit Text FOAVip Improving mutation screening in familial hematuric nephropathies through next generation sequencing ????J Am Soc Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=24854265 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24854265 #FOAvip English Wikipedia <ref>{{Cite pmid|24854265 }}</ref> Improving mutation screening in familial hematuric nephropathies through next generation sequencing #MMPMID24854265 Morinière V ; Dahan K ; Hilbert P ; Lison M ; Lebbah S ; Topa A ; Bole-Feysot C ; Pruvost S ; Nitschke P ; Plaisier E ; Knebelmann B ; Macher MA ; Noel LH ; Gubler MC ; Antignac C ; Heidet L J Am Soc Nephrol 2014[Dec]; 25 (12 ): 2740-51 PMID24854265 show ga Alport syndrome is an inherited nephropathy associated with mutations in genes encoding type IV collagen chains present in the glomerular basement membrane. COL4A5 mutations are associated with the major X-linked form of the disease, and COL4A3 and COL4A4 mutations are associated with autosomal recessive and dominant forms (thought to be involved in 15% and 1%-5% of the families, respectively) and benign familial hematuria. Mutation screening of these three large genes is time-consuming and expensive. Here, we carried out a combination of multiplex PCR, amplicon quantification, and next generation sequencing (NGS) analysis of three genes in 101 unrelated patients. We identified 88 mutations and 6 variations of unknown significance on 116 alleles in 83 patients. Two additional indel mutations were found only by secondary Sanger sequencing, but they were easily identified retrospectively with the web-based sequence visualization tool Integrative Genomics Viewer. Altogether, 75 mutations were novel. Sequencing the three genes simultaneously was particularly advantageous as the mode of inheritance could not be determined with certainty in many instances. The proportion of mutations in COL4A3 and COL4A4 was notably high, and the autosomal dominant forms of Alport syndrome appear more frequently than reported previously. Finally, this approach allowed the identification of large COL4A3 and COL4A4 rearrangements not described previously. We conclude that NGS is efficient, reduces screening time and cost, and facilitates the provision of appropriate genetic counseling in Alport syndrome. |*Mutation [MESH] |Adolescent [MESH] |Adult [MESH] |Autoantigens/genetics [MESH] |Child [MESH] |Child, Preschool [MESH] |Cohort Studies [MESH] |Collagen Type IV/genetics [MESH] |DNA Mutational Analysis [MESH] |Family Health [MESH] |Female [MESH] |Genetic Counseling [MESH] |Heterozygote [MESH] |High-Throughput Nucleotide Sequencing [MESH] |Humans [MESH] |Male [MESH] |Middle Aged [MESH] |Nephritis, Hereditary/*genetics/*pathology [MESH] |Phenotype [MESH] |Polymorphism, Single Nucleotide [MESH]Improving mutation screening in familial hematuric nephropathies throu(epmc).pdf DeepDyve Pubget Overpricing