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1. The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Author

Verbitsky, Miguel, Westland, Rik, Perez, Alejandra, Kiryluk, Krzysztof, Liu, Qingxue, Krithivasan, Priya, Mitrotti, Adele, Fasel, David, Batourina, Ekaterina, Sampson, Matthew, Bodria, Monica, Werth, Max, Kao, Charlly, Martino, Jeremiah, Capone, Valentina, Vivante, Asaf, Shril, Shirlee, Kil, Byum, Marasà, Maddalena, Zhang, Jun, Na, Young-Ji, Lim, Tze, Ahram, Dina, Weng, Patricia, Heinzen, Erin, Carrea, Alba, Piaggio, Giorgio, Gesualdo, Loreto, Manca, Valeria, Masnata, Giuseppe, Gigante, Maddalena, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna, Saraga, Marijan, Santoro, Domenico, Conti, Giovanni, Zamboli, Pasquale, White, Hope, Drozdz, Dorota, Zachwieja, Katarzyna, Miklaszewska, Monika, Tkaczyk, Marcin, Tomczyk, Daria, Krakowska, Anna, Sikora, Przemyslaw, Jarmoliński, Tomasz, Borszewska-Kornacka, Maria, Pawluch, Robert, Szczepanska, Maria, Adamczyk, Piotr, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Dobson, Mark, Darlow, John, Puri, Prem, Barton, David, Furth, Susan, Warady, Bradley, Gucev, Zoran, Lozanovski, Vladimir, Tasic, Velibor, Pisani, Isabella, Allegri, Landino, Rodas, Lida, Campistol, Josep, Jeanpierre, Cécile, Alam, Shumyle, Casale, Pasquale, Wong, Craig, Lin, Fangming, Miranda, Débora, Oliveira, Eduardo, Simões-E-Silva, Ana, Barasch, Jonathan, Levy, Brynn, Wu, Nan, Hildebrandt, Friedhelm, Ghiggeri, Gian, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Zhang, Feng, Hakonarson, Hakon, Papaioannou, Virginia, Mendelsohn, Cathy, Gharavi, Ali, and Sanna-Cherchi, Simone

Subjects
Chromosome Deletion, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Kidney, Male, Urinary Tract, Urogenital Abnormalities, Vesico-Ureteral Reflux
Abstract

Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls. Affected individuals carried a significant burden of rare exonic (that is, affecting coding regions) CNVs and were enriched for known genomic disorders (GD). Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, particularly duplications. Six loci (1q21, 4p16.1-p16.3, 16p11.2, 16p13.11, 17q12 and 22q11.2) accounted for 65% of patients with GD-CNVs. Deletions at 17q12, 4p16.1-p16.3 and 22q11.2 were specific for KA; the 16p11.2 locus showed extensive pleiotropy. Using a multidisciplinary approach, we identified TBX6 as a driver for the CAKUT subphenotypes in the 16p11.2 microdeletion syndrome.

Published
2019

2. Mutations in DSTYK and Dominant Urinary Tract Malformations

Author

Sanna-Cherchi, Simone, Sampogna, Rosemary V, Papeta, Natalia, Burgess, Katelyn E, Nees, Shannon N, Perry, Brittany J, Choi, Murim, Bodria, Monica, Liu, Yan, Weng, Patricia L, Lozanovski, Vladimir J, Verbitsky, Miguel, Lugani, Francesca, Sterken, Roel, Paragas, Neal, Caridi, Gianluca, Carrea, Alba, Dagnino, Monica, Materna-Kiryluk, Anna, Santamaria, Giuseppe, Murtas, Corrado, Ristoska-Bojkovska, Nadica, Izzi, Claudia, Kacak, Nilgun, Bianco, Beatrice, Giberti, Stefania, Gigante, Maddalena, Piaggio, Giorgio, Gesualdo, Loreto, Vukic, Durdica Kosuljandic, Vukojevic, Katarina, Saraga-Babic, Mirna, Saraga, Marijan, Gucev, Zoran, Allegri, Landino, Latos-Bielenska, Anna, Casu, Domenica, State, Matthew, Scolari, Francesco, Ravazzolo, Roberto, Kiryluk, Krzysztof, Al-Awqati, Qais, D'Agati, Vivette D, Drummond, Iain A, Tasic, Velibor, Lifton, Richard P, Ghiggeri, Gian Marco, and Gharavi, Ali G

Subjects
Urologic Diseases, Pediatric, Congenital Structural Anomalies, Human Genome, Kidney Disease, Biotechnology, Genetics, Clinical Research, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Underpinning research, Aetiology, Renal and urogenital, Adult, Animals, Base Sequence, Child, Exome, Female, Gene Knockdown Techniques, Genetic Linkage, Genome-Wide Association Study, Heterozygote, Humans, Infant, Kidney, Male, Mice, Molecular Sequence Data, Mutation, Pedigree, RNA, Small Interfering, Receptor-Interacting Protein Serine-Threonine Kinases, Urinary Tract, Urogenital Abnormalities, Young Adult, Medical and Health Sciences, General & Internal Medicine
Abstract

BackgroundCongenital abnormalities of the kidney and the urinary tract are the most common cause of pediatric kidney failure. These disorders are highly heterogeneous, and the etiologic factors are poorly understood.MethodsWe performed genomewide linkage analysis and whole-exome sequencing in a family with an autosomal dominant form of congenital abnormalities of the kidney or urinary tract (seven affected family members). We also performed a sequence analysis in 311 unrelated patients, as well as histologic and functional studies.ResultsLinkage analysis identified five regions of the genome that were shared among all affected family members. Exome sequencing identified a single, rare, deleterious variant within these linkage intervals, a heterozygous splice-site mutation in the dual serine-threonine and tyrosine protein kinase gene (DSTYK). This variant, which resulted in aberrant splicing of messenger RNA, was present in all affected family members. Additional, independent DSTYK mutations, including nonsense and splice-site mutations, were detected in 7 of 311 unrelated patients. DSTYK is highly expressed in the maturing epithelia of all major organs, localizing to cell membranes. Knockdown in zebrafish resulted in developmental defects in multiple organs, which suggested loss of fibroblast growth factor (FGF) signaling. Consistent with this finding is the observation that DSTYK colocalizes with FGF receptors in the ureteric bud and metanephric mesenchyme. DSTYK knockdown in human embryonic kidney cells inhibited FGF-stimulated phosphorylation of extracellular-signal-regulated kinase (ERK), the principal signal downstream of receptor tyrosine kinases.ConclusionsWe detected independent DSTYK mutations in 2.3% of patients with congenital abnormalities of the kidney or urinary tract, a finding that suggests that DSTYK is a major determinant of human urinary tract development, downstream of FGF signaling. (Funded by the National Institutes of Health and others.).

Published
2013

3. Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

Author

Sanna-Cherchi, Simone, Kiryluk, Krzysztof, Burgess, Katelyn E, Bodria, Monica, Sampson, Matthew G, Hadley, Dexter, Nees, Shannon N, Verbitsky, Miguel, Perry, Brittany J, Sterken, Roel, Lozanovski, Vladimir J, Materna-Kiryluk, Anna, Barlassina, Cristina, Kini, Akshata, Corbani, Valentina, Carrea, Alba, Somenzi, Danio, Murtas, Corrado, Ristoska-Bojkovska, Nadica, Izzi, Claudia, Bianco, Beatrice, Zaniew, Marcin, Flogelova, Hana, Weng, Patricia L, Kacak, Nilgun, Giberti, Stefania, Gigante, Maddalena, Arapovic, Adela, Drnasin, Kristina, Caridi, Gianluca, Curioni, Simona, Allegri, Franca, Ammenti, Anita, Ferretti, Stefania, Goj, Vinicio, Bernardo, Luca, Jobanputra, Vaidehi, Chung, Wendy K, Lifton, Richard P, Sanders, Stephan, State, Matthew, Clark, Lorraine N, Saraga, Marijan, Padmanabhan, Sandosh, Dominiczak, Anna F, Foroud, Tatiana, Gesualdo, Loreto, Gucev, Zoran, Allegri, Landino, Latos-Bielenska, Anna, Cusi, Daniele, Scolari, Francesco, Tasic, Velibor, Hakonarson, Hakon, Ghiggeri, Gian Marco, and Gharavi, Ali G

Subjects
Prevention, Kidney Disease, Human Genome, Genetics, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Renal and urogenital, Case-Control Studies, Chromosome Aberrations, DNA Copy Number Variations, Genetic Association Studies, Genotype, Humans, Kidney Diseases, Molecular Sequence Annotation, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts. CNV distribution was significantly skewed toward larger gene-disrupting events in RHD cases compared to 4,733 ethnicity-matched controls (p = 4.8 × 10(-11)). This excess was attributable to known and novel (i.e., not present in any database or in the literature) genomic disorders. All together, 55/522 (10.5%) RHD cases harbored 34 distinct known genomic disorders, which were detected in only 0.2% of 13,839 population controls (p = 1.2 × 10(-58)). Another 32 (6.1%) RHD cases harbored large gene-disrupting CNVs that were absent from or extremely rare in the 13,839 population controls, identifying 38 potential novel or rare genomic disorders for this trait. Deletions at the HNF1B locus and the DiGeorge/velocardiofacial locus were most frequent. However, the majority of disorders were detected in a single individual. Genomic disorders were detected in 22.5% of individuals with multiple malformations and 14.5% of individuals with isolated urinary-tract defects; 14 individuals harbored two or more diagnostic or rare CNVs. Strikingly, the majority of the known CNV disorders detected in the RHD cohort have previous associations with developmental delay or neuropsychiatric diseases. Up to 16.6% of individuals with kidney malformations had a molecular diagnosis attributable to a copy-number disorder, suggesting kidney malformations as a sentinel manifestation of pathogenic genomic imbalances. A search for pathogenic CNVs should be considered in this population for the diagnosis of their specific genomic disorders and for the evaluation of the potential for developmental delay.

Published
2012

4. Supplement to: Genetic drivers of kidney defects in the DiGeorge syndrome.

Author

Lopez-Rivera, Esther, Liu, Yangfan P., Verbitsky, Miguel, Anderson, Blair R., Capone, Valentina P., Otto, Edgar A., Yan, Zhonghai, Mitrotti, Adele, Martino, Jeremiah, Steers, Nicholas J., Fasel, David A., Vukojevic, Katarina, Deng, Rong, Racedo, Silvia E., Liu, Qingxue, Werth, Max, Westland, Rik, Vivante, Asaf, Makar, Gabriel S., Bodria, Monica, Sampson, Matthew G., Gillies, Christopher E., Vega-Warner, Virginia, Maiorana, Mariarosa, Petrey, Donald S., Honig, Barry, Lozanovski, Vladimir J., Salomon, Rémi, Heidet, Laurence, Carpentier, Wassila, Gaillard, Dominique, Carrea, Alba, Gesualdo, Loreto, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A.E., Arapovic, Adela, Saraga-Babic, Mirna, Saraga, Marijan, Kunac, Nenad, Samii, Ali, McDonald-McGinn, Donna M., Crowley, Terrence B., Zackai, Elaine H., Drosdz, Dorota, Miklaszewska, Monika, Tkaczyk, Marcin, Sikora, Przemyslaw, Szczepanska, Maria, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Darlow, John M., Puri, Prem, Barton, David, Casolari, Emilio, Furth, Susan L., Warady, Bradley A., Gucev, Zoran, Hakonarson, Hakon, Flogelova, Hana, Tasic, Velibor, Bielenska, Anna Latos, Materna-Kiryluk, Anna, Allegri, Landino, Wong, Craig S., Drummond, Iain A., DʼAgati, Vivette, Imamoto, Akira, Barasch, Jonathan M., Hildebrandt, Friedhelm, Kiryluk, Krzysztof, Lifton, Richard P., Morrow, Bernice E., Jeanpierre, Cecile, Papaioannou, Virginia E., Ghiggeri, Gian Marco, Gharavi, Ali G., Katsanis, Nicholas, and Sanna-Cherchi, Simone

Published
2017

5. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Author

Lopez-Rivera, Esther, Liu, Yangfan P., Verbitsky, Miguel, Anderson, Blair R., Capone, Valentina P., Otto, Edgar A., Yan, Zhonghai, Mitrotti, Adele, Martino, Jeremiah, Steers, Nicholas J., Fasel, David A., Vukojevic, Katarina, Deng, Rong, Racedo, Silvia E., Liu, Qingxue, Werth, Max, Westland, Rik, Vivante, Asaf, Makar, Gabriel S., Bodria, Monica, Sampson, Matthew G., Gillies, Christopher E., Vega-Warner, Virginia, Maiorana, Mariarosa, Petrey, Donald S., Honig, Barry, Lozanovski, Vladimir J., Salomon, Rémi, Heidet, Laurence, Carpentier, Wassila, Gaillard, Dominique, Carrea, Alba, Gesualdo, Loreto, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A.E., Arapovic, Adela, Saraga-Babic, Mirna, Saraga, Marijan, Kunac, Nenad, Samii, Ali, McDonald-McGinn, Donna M., Crowley, Terrence B., Zackai, Elaine H., Drozdz, Dorota, Miklaszewska, Monika, Tkaczyk, Marcin, Sikora, Przemyslaw, Szczepanska, Maria, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Darlow, John M., Puri, Prem, Barton, David, Casolari, Emilio, Furth, Susan L., Warady, Bradley A., Gucev, Zoran, Hakonarson, Hakon, Flogelova, Hana, Tasic, Velibor, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Allegri, Landino, Wong, Craig S., Drummond, Iain A., DʼAgati, Vivette, Imamoto, Akira, Barasch, Jonathan M., Hildebrandt, Friedhelm, Kiryluk, Krzysztof, Lifton, Richard P., Morrow, Bernice E., Jeanpierre, Cecile, Papaioannou, Virginia E., Ghiggeri, Gian Marco, Gharavi, Ali G., Katsanis, Nicholas, and Sanna-Cherchi, Simone

Published
2017
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6. Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Author

Verbitsky, Miguel, Westland, Rik, Perez, Alejandra, Kiryluk, Krzysztof, Liu, Qingxue, Krithivasan, Priya, Mitrotti, Adele, Fasel, David A., Batourina, Ekaterina, Sampson, Matthew G., Bodria, Monica, Werth, Max, Kao, Charlly, Martino, Jeremiah, Capone, Valentina P., Vivante, Asaf, Shril, Shirlee, Kil, Byum Hee, Marasa, Maddalena, Zhang, Jun Y., Na, Young-Ji, Lim, Tze Y., Ahram, Dina, Weng, Patricia L., Heinzen, Erin L., Carrea, Alba, Piaggio, Giorgio, Gesualdo, Loreto, Manca, Valeria, Masnata, Giuseppe, Gigante, Maddalena, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A. E., Saraga, Marijan, Santoro, Domenico, Conti, Giovanni, Zamboli, Pasquale, White, Hope, Drozdz, Dorota, Zachwieja, Katarzyna, Miklaszewska, Monika, Tkaczyk, Marcin, Tomczyk, Daria, Krakowska, Anna, Sikora, Przemyslaw, Jarmoliński, Tomasz, Borszewska-Kornacka, Maria K., Pawluch, Robert, Szczepanska, Maria, Adamczyk, Piotr, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Dobson, Mark G., Darlow, John M., Puri, Prem, Barton, David E., Furth, Susan L., Warady, Bradley A., Gucev, Zoran, Lozanovski, Vladimir J., Tasic, Velibor, Pisani, Isabella, Allegri, Landino, Rodas, Lida M., Campistol, Josep M., Jeanpierre, Cécile, Alam, Shumyle, Casale, Pasquale, Wong, Craig S., Lin, Fangming, Miranda, Débora M., Oliveira, Eduardo A., Simoes-e-Silva, Ana Cristina, Barasch, Jonathan M., Levy, Brynn, Wu, Nan, Hildebrandt, Friedhelm, Ghiggeri, Gian Marco, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Zhang, Feng, Hakonarson, Hakon, Papaioannou, Virginia E., Mendelsohn, Cathy L., Gharavi, Ali G., and Sanna-Cherchi, Simone

Published
2019
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7. Supplement to: Mutations in DSTYK and dominant urinary tract malformations.

Author

Sanna-Cherchi, Simone, Sampogna, Rosemary V, Papeta, Natalia, Burgess, Katelyn E, Nees, Shannon N, Perry, Brittany J, Choi, Murim, Bodria, Monica, Liu, Yan, Weng, Patricia L, Lozanovski, Vladimir J, Verbitsky, Miguel, Lugani, Francesca, Sterken, Roel, Paragas, Neal, Caridi, Gianluca, Carrea, Alba, Dagnino, Monica, Materna-Kiryluk, Anna, Santamaria, Giuseppe, Murtas, Corrado, Ristoska-Bojkovska, Nadica, Izzi, Claudia, Kacak, Nilgun, Bianco, Beatrice, Giberti, Stefania, Gigante, Maddalena, Piaggio, Giorgio, Gesualdo, Loreto, Vukic, Durdica Kosuljandic, Vukojevic, Katarina, Saraga-Babic, Mirna, Saraga, Marijan, Gucev, Zoran, Allegri, Landino, Latos-Bielenska, Anna, Casu, Domenica, State, Matthew, Scolari, Francesco, Ravazzolo, Roberto, Kiryluk, Krzysztof, Al-Awqati, Qais, DʼAgati, Vivette, Drummond, Iain A., Tasic, Velibor, Lifton, Richard P, Ghiggeri, Gian Marco, and Gharavi, Ali G

Published
2013

8. Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33

Author

Sanna-Cherchi, Simone, Caridi, Gianluca, Weng, Patricia L., Dagnino, Monica, Seri, Marco, Konka, Anita, Somenzi, Danio, Carrea, Alba, Izzi, Claudia, Casu, Domenica, Allegri, Landino, Schmidt-Ott, Kai M., Barasch, Jonathan, Scolari, Francesco, Ravazzolo, Roberto, and Ghiggeri, Gian Marco

Subjects
Urologic diseases -- Genetic aspects, Urologic diseases -- Research, Human chromosomes -- Research, Biological sciences
Abstract

The phenotypic characterization of families with nonsyndromic renal hypodysplasia, the identification of a locus for this trait and functional annotation and prioritization of positional candidates are presented. The identification of the gene underlying the 1p32-33 link will help in understanding the molecular basis of renal developmental disorders and also about interindividual variability in nephron number and therapeutic implications.

Published
2007

22. The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Author

Verbitsky, Miguel, primary, Westland, Rik, additional, Perez, Alejandra, additional, Kiryluk, Krzysztof, additional, Liu, Qingxue, additional, Krithivasan, Priya, additional, Mitrotti, Adele, additional, Fasel, David A., additional, Batourina, Ekaterina, additional, Sampson, Matthew G., additional, Bodria, Monica, additional, Werth, Max, additional, Kao, Charlly, additional, Martino, Jeremiah, additional, Capone, Valentina P., additional, Vivante, Asaf, additional, Shril, Shirlee, additional, Kil, Byum Hee, additional, Marasà, Maddalena, additional, Zhang, Jun Y., additional, Na, Young-Ji, additional, Lim, Tze Y., additional, Ahram, Dina, additional, Weng, Patricia L., additional, Heinzen, Erin L., additional, Carrea, Alba, additional, Piaggio, Giorgio, additional, Gesualdo, Loreto, additional, Manca, Valeria, additional, Masnata, Giuseppe, additional, Gigante, Maddalena, additional, Cusi, Daniele, additional, Izzi, Claudia, additional, Scolari, Francesco, additional, van Wijk, Joanna A. E., additional, Saraga, Marijan, additional, Santoro, Domenico, additional, Conti, Giovanni, additional, Zamboli, Pasquale, additional, White, Hope, additional, Drozdz, Dorota, additional, Zachwieja, Katarzyna, additional, Miklaszewska, Monika, additional, Tkaczyk, Marcin, additional, Tomczyk, Daria, additional, Krakowska, Anna, additional, Sikora, Przemyslaw, additional, Jarmoliński, Tomasz, additional, Borszewska-Kornacka, Maria K., additional, Pawluch, Robert, additional, Szczepanska, Maria, additional, Adamczyk, Piotr, additional, Mizerska-Wasiak, Malgorzata, additional, Krzemien, Grazyna, additional, Szmigielska, Agnieszka, additional, Zaniew, Marcin, additional, Dobson, Mark G., additional, Darlow, John M., additional, Puri, Prem, additional, Barton, David E., additional, Furth, Susan L., additional, Warady, Bradley A., additional, Gucev, Zoran, additional, Lozanovski, Vladimir J., additional, Tasic, Velibor, additional, Pisani, Isabella, additional, Allegri, Landino, additional, Rodas, Lida M., additional, Campistol, Josep M., additional, Jeanpierre, Cécile, additional, Alam, Shumyle, additional, Casale, Pasquale, additional, Wong, Craig S., additional, Lin, Fangming, additional, Miranda, Débora M., additional, Oliveira, Eduardo A., additional, Simões-e-Silva, Ana Cristina, additional, Barasch, Jonathan M., additional, Levy, Brynn, additional, Wu, Nan, additional, Hildebrandt, Friedhelm, additional, Ghiggeri, Gian Marco, additional, Latos-Bielenska, Anna, additional, Materna-Kiryluk, Anna, additional, Zhang, Feng, additional, Hakonarson, Hakon, additional, Papaioannou, Virginia E., additional, Mendelsohn, Cathy L., additional, Gharavi, Ali G., additional, and Sanna-Cherchi, Simone, additional

Published
2018
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24. Phenotypic Expansion of DGKE-Associated Diseases

Author

Westland, Rik, primary, Bodria, Monica, additional, Carrea, Alba, additional, Lata, Sneh, additional, Scolari, Francesco, additional, Fremeaux-Bacchi, Veronique, additional, D’Agati, Vivette D., additional, Lifton, Richard P., additional, Gharavi, Ali G., additional, Ghiggeri, Gian Marco, additional, and Sanna-Cherchi, Simone, additional

Published
2014
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26. Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome

Author

Sanna-Cherchi, Simone, primary, Burgess, Katelyn E., additional, Nees, Shannon N., additional, Caridi, Gianluca, additional, Weng, Patricia L., additional, Dagnino, Monica, additional, Bodria, Monica, additional, Carrea, Alba, additional, Allegretta, Maddalena A., additional, Kim, Hyunjae R., additional, Perry, Brittany J., additional, Gigante, Maddalena, additional, Clark, Lorraine N., additional, Kisselev, Sergey, additional, Cusi, Daniele, additional, Gesualdo, Loreto, additional, Allegri, Landino, additional, Scolari, Francesco, additional, D'Agati, Vivette, additional, Shapiro, Lawrence S., additional, Pecoraro, Carmine, additional, Palomero, Teresa, additional, Ghiggeri, Gian M., additional, and Gharavi, Ali G., additional

Published
2011
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34. Homocysteine, folate, vitamin B[sub 12] levels, and C677T MTHFR mutation in children with renal failure.

Author

Canepa, Alberto, Carrea, Alba, Caridi, Gianluca, Dertenois, Laura, Minniti, Giuseppe, Cerone, Roberto, Canini, Silvana, Calevo, Maria Grazia, and Perfumo, Francesco

Subjects
CHRONIC kidney failure, HOMOCYSTEINE, FOLIC acid, VITAMIN B12
Abstract

Hyperhomocysteinemia is well documented in chronic renal failure (CRF) and premature and progressive occlusive vascular disease is common in CRF. The combined effects of renal failure, folate and vitamin B[sub 12] levels, and a common mutation (C677T) in the methylenetetrahydrofolate reductase (MTHFR) gene that leads to total plasma homocysteine (tHcy) elevation in CRF children were investigated. Forty-two children (15 females) with CRF, mean age 10.3±4.7 years, were included. The mean glomerular filtration rate (GFR) was 37.3±16.9 ml/min per 1.73 m². The control group comprised 33 children (18 females) with a mean age of 8.6±3.4 years. There were 40% of CRF patients with hyperhomocysteinemia. Folate and vitamin B[sub 12] deficiencies were identified in 14% (n=6) and 5% (n=2), respectively, of all patients. On univariate analysis, the tHcy serum concentration was negatively correlated with the plasma folate concentration (P<0.05) in controls, and with GFR (P<0.05) in patients. On multiple regression analysis for the predictors of tHcy serum concentrations, folic and vitamin B[sub 12] were significant in controls, whereas only GFR was significant in CRF children. In our patients no effect of the MTHFR polymorphism on tHcy levels was seen This result, in addition to the limited number of patients, may partially be explained by the low prevalence of folate deficiency in our patients. [ABSTRACT FROM AUTHOR]

Published
2003
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35. A HIGH FREQUENCY OF GENOMIC DISORDERS IN PATIENTS WITH CONGENITAL KIDNEY MALFORMATIONS

Author

Sanna-Cherchi, Simone, Kiryluk, Krzysztof, Burgess, Katelyn E., Bodria, Monica, Sampson, Matthew G., Hadley, Dexter, Nees, Shannon N., Sterken, Roel, Verbitsky, Miguel, Lozanovski, Vladimir J., Materna-Kiryluk, Anna, Perry, Brittany J., Carrea, Alba, Murtas, Corrado, Ristoska-Bojkovska, Nadica, Zaniew, Marcin, Flogelova, Hana, Weng, Patricia L., Arapovic, Adela, Drnasin, Kristina, Gianluca Caridi, Goj, Vinicio, Lifton, Richard P., Saraga, Marijan, Dominiczak, Anna F., Gesualdo, Loreto, Gucev, Zoran, Allegri, Landino, Latos-Bielenska, Anna, Cusi, Daniele, Scolari, Francesco, Tasic, Velibor, Hakonarson, Hakon, Ghiggeri, Gian Marco, and Gharavi, Ali G.

Subjects
Congenital kidney malformations, Genomic disorders
Abstract

Up to 16.6 % of patients with congenital kidney defects have a molecular diagnosis attributable to a genomic disorder. A search for genomic structural variantsis indicated in this patient population to diagnose theirspecific genomic disorders, conduct adequate geneticcounseling, and individualize medical care.

36. [Familial Focal Segmental Glomerulosclerosis, a vademecum for clinical nephrologist].

Author

Caridi G, Lugani F, Bonanni E, Rossi R, Carrea A, and Ghiggeri GM

Subjects
Genes, Recessive, Humans, Nephrology, Glomerulosclerosis, Focal Segmental genetics
Abstract

The new genomic technologies (Next Generation Sequencing, NGS) are opening a new era in Genomic Medicine. This simple guide gives a state-of-the-art description of the genes that cause Focal Segmental Glomerulosclerosis and nephrotic syndrome.

Published
2015

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