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10.1038/gim.2016.131 http://scihub22266oqcxt.onion/10.1038/gim.2016.131 C5362362!5362362!27657687     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=27657687&cmd=llinks): Failed to open stream: HTTP request failed! 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Whole-Exome Sequencing in the molecular diagnosis of individuals with congenital anomalies of kidney and urinary tract and identification of a new causative gene |pdf=|usr=}}{{27657687}} gab.com Text Whole-Exome Sequencing in the molecular diagnosis of individuals with congenital anomalies of kidney and urinary tract and identification of a new causative gene JO: Genet Med http://www.kidney.de/pget.php?&tw=1&pmid=27657687 #FOAvip Purpose: To investigate the utility of whole-exome sequencing (WES) to define a molecular diagnosis in patients clinically diagnosed with congenital anomalies of kidney and urinary tract (CAKUT). Methods: WES was performed in 62 families with CAKUT. WES data were analyzed for Single Nucleotide Variants (SNVs) in 35 known CAKUT genes, putatively deleterious sequence changes in new candidate genes, and potentially disease-associated copy-number variants (CNVs). Results: In approximately 5% of families, pathogenic SNVs were identified in PAX2, HNF1B, and EYA1. Observed phenotypes in these families expand the current understanding about the role of these genes in CAKUT. Four pathogenic CNVs were also identified using two CNV detection tools. In addition, we found one deleterious de novo SNV in FOXP1 among the 62 families with CAKUT. Database of clinical BMGL laboratory was queried and seven additional unrelated individuals with novel de novo SNVs in FOXP1 were identified. Six of these 8 individuals with FOXP1 SNVs, have syndromic urinary tract defects, implicating this gene in urinary tract development. Conclusion: We conclude that WES can be used to identify the molecular etiology (SNVs, CNVs) in a subset of individuals with CAKUT. WES can also help identify novel CAKUT genes. Twit Text FOAVip Whole-Exome Sequencing in the molecular diagnosis of individuals with congenital anomalies of kidney and urinary tract and identification of a new causative gene ????Genet Med http://www.kidney.de/pget.php?&tw=1&pmid=27657687 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27657687 #FOAvip English Wikipedia <ref>{{Cite pmid|27657687}}</ref> Whole-Exome Sequencing in the molecular diagnosis of individuals with congenital anomalies of kidney and urinary tract and identification of a new causative gene #MMPMID27657687 Bekheirnia MR; Bekheirnia N; Bainbridge MN; Gu S; Akdemir ZHC; Gambin T; Janzen NK; Jhangiani SN; Muzny DM; Michael M; Brewer ED; Elenberg E; Kale AS; Riley AA; Swartz SJ; Scott DA; Yang Y; Srivaths PR; Wenderfer SE; Bodurtha J; Applegate CD; Velinov M; Myers A; Borovik L; Craigen WJ; Hanchard NA; Rosenfeld JA; Lewis RA; Gonzales ET; Gibbs RA; Belmont JW; Roth DR; Eng C; Braun MC; Lupski JR; Lamb DJ Genet Med 2017[Apr]; 19 (4): 412-20 PMID27657687show ga Purpose: To investigate the utility of whole-exome sequencing (WES) to define a molecular diagnosis in patients clinically diagnosed with congenital anomalies of kidney and urinary tract (CAKUT). Methods: WES was performed in 62 families with CAKUT. WES data were analyzed for Single Nucleotide Variants (SNVs) in 35 known CAKUT genes, putatively deleterious sequence changes in new candidate genes, and potentially disease-associated copy-number variants (CNVs). Results: In approximately 5% of families, pathogenic SNVs were identified in PAX2, HNF1B, and EYA1. Observed phenotypes in these families expand the current understanding about the role of these genes in CAKUT. Four pathogenic CNVs were also identified using two CNV detection tools. In addition, we found one deleterious de novo SNV in FOXP1 among the 62 families with CAKUT. Database of clinical BMGL laboratory was queried and seven additional unrelated individuals with novel de novo SNVs in FOXP1 were identified. Six of these 8 individuals with FOXP1 SNVs, have syndromic urinary tract defects, implicating this gene in urinary tract development. Conclusion: We conclude that WES can be used to identify the molecular etiology (SNVs, CNVs) in a subset of individuals with CAKUT. WES can also help identify novel CAKUT genes. äWhole-Exome Sequencing in the molecular diagnosis of individuals with (epmc).pdf DeepDyve Pubget Overpricing