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Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.


ABSTRACT: To investigate the utility of whole-exome sequencing (WES) to define a molecular diagnosis for patients clinically diagnosed with congenital anomalies of kidney and urinary tract (CAKUT).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).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. The clinical database of the Baylor Miraca Genetics laboratory was queried and seven additional unrelated individuals with novel de novo SNVs in FOXP1 were identified. Six of these eight individuals with FOXP1 SNVs have syndromic urinary tract defects, implicating this gene in urinary tract development.We conclude that WES can be used to identify molecular etiology (SNVs, CNVs) in a subset of individuals with CAKUT. WES can also help identify novel CAKUT genes.Genet Med 19 4, 412-420.

SUBMITTER: Bekheirnia MR 

PROVIDER: S-EPMC5362362 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature

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Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

Bekheirnia Mir Reza MR   Bekheirnia Nasim N   Bainbridge Matthew N MN   Gu Shen S   Coban Akdemir Zeynep Hande ZH   Gambin Tomek T   Janzen Nicolette K NK   Jhangiani Shalini N SN   Muzny Donna M DM   Michael Mini M   Brewer Eileen D ED   Elenberg Ewa E   Kale Arundhati S AS   Riley Alyssa A AA   Swartz Sarah J SJ   Scott Daryl A DA   Yang Yaping Y   Srivaths Poyyapakkam R PR   Wenderfer Scott E SE   Bodurtha Joann J   Applegate Carolyn D CD   Velinov Milen M   Myers Angela A   Borovik Lior L   Craigen William J WJ   Hanchard Neil A NA   Rosenfeld Jill A JA   Lewis Richard Alan RA   Gonzales Edmond T ET   Gibbs Richard A RA   Belmont John W JW   Roth David R DR   Eng Christine C   Braun Michael C MC   Lupski James R JR   Lamb Dolores J DJ  

Genetics in medicine : official journal of the American College of Medical Genetics 20160922 4


<h4>Purpose</h4>To investigate the utility of whole-exome sequencing (WES) to define a molecular diagnosis for patients clinically diagnosed with congenital anomalies of kidney and urinary tract (CAKUT).<h4>Methods</h4>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).<h4>Results</h4>In appr  ...[more]

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