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1. Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2

Author

Christians, Anne, Kesdiren, Esra, Hennies, Imke, Hofmann, Alejandro, Trowe, Mark-Oliver, Brand, Frank, Martens, Helge, Gjerstad, Ann Christin, Gucev, Zoran, Zirngibl, Matthias, Geffers, Robert, Seeman, Tomáš, Billing, Heiko, Bjerre, Anna, Tasic, Velibor, Kispert, Andreas, Ure, Benno, Haffner, Dieter, Dingemann, Jens, and Weber, Ruthild G.

Published
2023
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2. 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

3. Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis

Author

Ahram, Dina F., Lim, Tze Y., Ke, Juntao, Jin, Gina, Verbitsky, Miguel, Bodria, Monica, Kil, Byum Hee, Chatterjee, Debanjana, Piva, Stacy E., Marasa, Maddalena, Zhang, Jun Y., Cocchi, Enrico, Caridi, Gianluca, Gucev, Zoran, Lozanovski, Vladimir J., Pisani, Isabella, Izzi, Claudia, Savoldi, Gianfranco, Gnutti, Barbara, Capone, Valentina P., Morello, William, Guarino, Stefano, Esposito, Pasquale, Lambert, Sarah, Radhakrishnan, Jai, Appel, Gerald B., Uy, Natalie S., Rao, Maya K., Canetta, Pietro A., Bomback, Andrew S., Nestor, Jordan G., Hays, Thomas, Cohen, David J., Finale, Carolina, Wijk, Joanna A.E. van, La Scola, Claudio, Baraldi, Olga, Tondolo, Francesco, Di Renzo, Dacia, Jamry-Dziurla, Anna, Pezzutto, Alessandro, Manca, Valeria, Mitrotti, Adele, Santoro, Domenico, Conti, Giovanni, Martino, Marida, Giordano, Mario, Gesualdo, Loreto, Zibar, Lada, Masnata, Giuseppe, Bonomini, Mario, Alberti, Daniele, La Manna, Gaetano, Caliskan, Yasar, Ranghino, Andrea, Marzuillo, Pierluigi, Kiryluk, Krzysztof, Krzemień, Grażyna, Miklaszewska, Monika, Lin, Fangming, Montini, Giovanni, Scolari, Francesco, Fiaccadori, Enrico, Arapović, Adela, Saraga, Marijan, McKiernan, James, Alam, Shumyle, Zaniew, Marcin, Szczepańska, Maria, Szmigielska, Agnieszka, Sikora, Przemysław, Drożdż, Dorota, Mizerska-Wasiak, Malgorzata, Mane, Shrikant, Lifton, Richard P., Tasic, Velibor, Latos-Bielenska, Anna, Gharavi, Ali G., Ghiggeri, Gian Marco, Materna-Kiryluk, Anna, Westland, Rik, and Sanna-Cherchi, Simone

Published
2023
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4. The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers

Author

Tylki-Szymańska, Anna, Almássy, Zsuzsanna, Christophidou-Anastasiadou, Violetta, Avdjieva-Tzavella, Daniela, Barisic, Ingeborg, Cerkauskiene, Rimante, Cuturilo, Goran, Djiordjevic, Maja, Gucev, Zoran, Hlavata, Anna, Kieć-Wilk, Beata, Magner, Martin, Pecin, Ivan, Plaiasu, Vasilica, Samardzic, Mira, Zafeiriou, Dimitrios, Zaganas, Ioannis, and Lampe, Christina

Published
2022
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7. Rare heterozygous GDF6 variants in patients with renal anomalies

Author

Martens, Helge, Hennies, Imke, Getwan, Maike, Christians, Anne, Weiss, Anna-Carina, Brand, Frank, Gjerstad, Ann Christin, Christians, Arne, Gucev, Zoran, Geffers, Robert, Seeman, Tomáš, Kispert, Andreas, Tasic, Velibor, Bjerre, Anna, Lienkamp, Soeren S., Haffner, Dieter, and Weber, Ruthild G.

Published
2020
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8. 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

9. 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

10. Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.

Author

Teov, Bojan, Janchevska, Aleksandra, Beqiri-Jasari, Ardiana, Tasic, Velibor, Kungulovski, Goran, and Gucev, Zoran

Subjects
CEREBELLAR ataxia, INTELLECTUAL disabilities, SPINOCEREBELLAR ataxia, QUADRUPEDALISM, HETEROZYGOSITY, CEREBELLUM degeneration, CORPUS callosum
Abstract

Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) is a genetically and clinically heterogeneous disorder with four described subtypes. Autosomal recessive syndrome of cerebellar ataxia, mental retardation, and disequilibrium type 4 (CAMRQ4) is caused by mutations in the ATP8A2 gene. We report an 8-year-old boy with choreoathetosis, hypotonia, without the ability to keep his head up and profound mental retardation. There was quadrupedal locomotion, as well. MRI of the brain revealed a hypotrophy of the corpus callosum, diffuse white matter reduction, widespread delayed myelination and ventriculomegaly. Trio whole-exome sequencing revealed compound heterozygosity in the ATP8A2 gene consisting of a known variant c.1756C>T (p.Arg586*) inherited from the mother and a novel variant c.691_701delCTGATGAAGTT (p.Leu231fs) inherited from the father. CAMRQ type 4 has been found in about 50 patients. To the best of our knowledge, this is the first reported patient with CAMRQ4 with these gene variants. The clinical presentation is severe. [ABSTRACT FROM AUTHOR]

Published
2023
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12. Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract

Author

Kesdiren, Esra, Martens, Helge, Brand, Frank, Werfel, Lina, Wedekind, Lukas, Trowe, Mark-Oliver, Schmitz, Jessica, Hennies, Imke, Geffers, Robert, Gucev, Zoran, Seeman, Tomáš, Schmidt, Sonja, Tasic, Velibor, Fasano, Laurent, Bräsen, Jan H., Kispert, Andreas, Christians, Anne, Haffner, Dieter, and Weber, Ruthild G.

Abstract

Around 180 genes have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in mice, and represent promising novel candidate genes for human CAKUT. In whole-exome sequencing data of two siblings with genetically unresolved multicystic dysplastic kidneys (MCDK), prioritizing variants in murine CAKUT-associated genes yielded a rare variant in the teashirt zinc finger homeobox 3 (TSHZ3) gene. Therefore, the role of TSHZ3in human CAKUT was assessed. Twelve CAKUT patients from 9/301 (3%) families carried five different rare heterozygous TSHZ3missense variants predicted to be deleterious. CAKUT patients with versus without TSHZ3variants were more likely to present with hydronephrosis, hydroureter, ureteropelvic junction obstruction, MCDK, and with genital anomalies, developmental delay, overlapping with the previously described phenotypes in Tshz3-mutant mice and patients with heterozygous 19q12-q13.11 deletions encompassing the TSHZ3locus. Comparable with Tshz3-mutant mice, the smooth muscle layer was disorganized in the renal pelvis and thinner in the proximal ureter of the nephrectomy specimen of a TSHZ3variant carrier compared to controls. TSHZ3was expressed in the human fetal kidney, and strongly at embryonic day 11.5-14.5 in mesenchymal compartments of the murine ureter, kidney, and bladder. TSHZ3variants in a 5′ region were more frequent in CAKUT patients than in gnomAD samples (p< 0.001). Mutant TSHZ3 harboring N-terminal variants showed significantly altered SOX9 and/or myocardin binding, possibly adversely affecting smooth muscle differentiation. Our results provide evidence that heterozygous TSHZ3variants are associated with human CAKUT, particularly MCDK, hydronephrosis, and hydroureter, and, inconsistently, with specific extrarenal features, including genital anomalies.

Published
2024
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14. Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2

Author

Christians, Anne, primary, Kesdiren, Esra, additional, Hennies, Imke, additional, Hofmann, Alejandro, additional, Trowe, Mark-Oliver, additional, Brand, Frank, additional, Martens, Helge, additional, Gjerstad, Ann Christin, additional, Gucev, Zoran, additional, Zirngibl, Matthias, additional, Geffers, Robert, additional, Seeman, Tomáš, additional, Billing, Heiko, additional, Bjerre, Anna, additional, Tasic, Velibor, additional, Kispert, Andreas, additional, Ure, Benno, additional, Haffner, Dieter, additional, Dingemann, Jens, additional, and Weber, Ruthild G., additional

Published
2022
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15. 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

16. Peripheral Insulin Edema and Pericardial Effusion in a 12-Year-Old Newly Diagnosed Girl with Type 1 Diabetes.

Author

Janchevska, Aleksandra, Jovanovska, Valentina, Jordanova, Olivera, Beqiri-Jashari, Ardiana, Krstevska-Konstantinova, Marina, Tasic, Velibor, and Gucev, Zoran S.

Subjects
PERICARDIAL effusion, TYPE 1 diabetes, EDEMA, TEENAGE girls, INSULIN therapy, INSULIN
Abstract

Introduction: Insulin induced edema (IIE) is a rare condition, usually found in newly diagnosed diabetes patients, either after insulin treatment initiation or after dose increment. It is a self-limited process, rarely associated with serosal effusions. Teenage girls with type 1 diabetes (T1DM) are most commonly affected. Patient and Methods: A 12-year-old girl was diagnosed with ketoacidosis (DKA). Seven days after initiation of the insulin treatment, at a stable total daily dose of insulin (TDDI) of 0.55 IU/kg, she came with two kilograms weight gain in only two days and edema of the feet and calves. Ultrasound of the heart found a 7 mm pericardial effusion. The diagnostic workout included clinical examination, biochemical, hormonal, allergen analyses and imaging which excluded other known causes of swelling. Conclusions: We describe an adolescent girl with newly diagnosed T1DM and a rare association of peripheral insulin-induced edema and pericardial effusion. Short-term diuretic treatment and salt restriction resolved this rare complication of insulin treatment. [ABSTRACT FROM AUTHOR]

Published
2023
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17. Alström Syndrome with Early Vision and Hearing Impairement

Author

Beqiri-Jashari, Ardiana, primary, Janchevska, Aleksandra, additional, Ahmeti, Irfan, additional, Doksimovski, Filip, additional, Cipanovska, Marija, additional, Teov, Bojan, additional, Stefanovska, Emilija Sukarova, additional, Plaseska-Karanfilska, Dijana, additional, and Gucev, Zoran, additional

Published
2022
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18. Somapacitan, a once‐weekly reversible albumin‐binding GH derivative, in children with GH deficiency: A randomized dose‐escalation trial

Author

Battelino, Tadej, Rasmussen, Michael Højby, De Schepper, Jean, Zuckerman‐Levin, Nehama, Gucev, Zoran, Sävendahl, Lars, Fröhlich‐Reiterer, E, Schmitt, K, Furthner, D, Beauloye, V, Zumsteg, U, Schwitzgebel, V, Ibañez, L, Yeste, D, López, I, Barreiro, J, Tauber, M, Polak, M, Hershkovitz, E, Hamiel, O, Phillip, M, Eliakim, A, Zangen, D, Hansen, E, Glosli, H, Ekström, K, and Zerjav‐Tansek, M

Published
2017
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20. 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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21. 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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22. Treatment and long-term outcome in primary distal renal tubular acidosis

Author

Lopez-Garcia, Sergio Camilo, Emma, Francesco, Walsh, Stephen B, Fila, Marc, Hooman, Nakysa, Zaniew, Marcin, Bertholet-Thomas, Aurelia, Colussi, Giacomo, Burgmaier, Kathrin, Levtchenko, Elena, Sharma, Jyoti, Singhal, Jyoti, Soliman, Neveen A, Ariceta, Gema, Basu, Biswanath, Murer, Luisa, Tasic, Velibor, Tsygin, Alexey, Decramer, Stephane, Gil-Pena, Helena, Koster-Kamphuis, Linda, La Scola, Claudio, Gellermann, Jutta, Konrad, Martin, Lilien, Marc, Francisco, Telma, Tramma, Despoina, Trnka, Peter, Yuksel, Selcuk, Caruso, Maria Rosa, Chromek, Milan, Ekinci, Zelal, Gambaro, Giovanni, Kari, Jameela A, Koenig, Jens, Taroni, Francesca, Thumfart, Julia, Trepiccione, Francesco, Winding, Louise, Wuehl, Elke, Agbas, Ayse, Belkevich, Anna, Vargas-Poussou, Rosa, Blanchard, Anne, Conti, Giovanni, Boyer, Olivia, Dursun, Ismail, Pinarbasi, Ayse Seda, Melek, Engin, Miglinas, Marius, Novo, Robert, Mallett, Andrew, Milosevic, Danko, Szczepanska, Maria, Wente, Sarah, Cheong, Hae Il, Sinha, Rajiv, Gucev, Zoran, Dufek, Stephanie, Iancu, Daniela, Kleta, Robert, Schaefer, Franz, Bockenhauer, Detlef, Peco-Antic, Amira, Kaur, Amrit, Paglialunga, Antonino, Servais, Aude, Lutovac, Branko, Hoorn, Ewout J, Shasha-Lavsky, Hadas, Harambat, Jerome, Godron-Dubrasquet, Astrid, Buder, Kathrin, Allard, Lise, Patzer, Ludwig, Shumikhina, Marina, Hansen, Matthias, Printza, Nikoleta, Kucuk, Nuran, Beringer, Ortraud, Bhimma, Rajendra, Cerkauskiene, Rimante, Klinikos, Santaros, Neuhaus, Thomas J, Stavileci, Valbona, Ulinski, Tim, Dincel, Nida Temizkan, Mohebbi, Nilufar, Çukurova Üniversitesi, Lopez-Garcia, Sergio Camilo, Emma, Francesco, Walsh, Stephen B, Fila, Marc, Hooman, Nakysa, Zaniew, Marcin, Bertholet-Thomas, Aurélia, Colussi, Giacomo, Burgmaier, Kathrin, Levtchenko, Elena, Sharma, Jyoti, Singhal, Jyoti, Soliman, Neveen A, Ariceta, Gema, Basu, Biswanath, Murer, Luisa, Tasic, Velibor, Tsygin, Alexey, Decramer, Stéphane, Gil-Peña, Helena, Koster-Kamphuis, Linda, La Scola, Claudio, Gellermann, Jutta, Konrad, Martin, Lilien, Marc, Francisco, Telma, Tramma, Despoina, Trnka, Peter, Yüksel, Selçuk, Caruso, Maria Rosa, Chromek, Milan, Ekinci, Zelal, Gambaro, Giovanni, Kari, Jameela A, König, Jen, Taroni, Francesca, Thumfart, Julia, Trepiccione, Francesco, Winding, Louise, Wühl, Elke, Ağbaş, Ayşe, Belkevich, Anna, Vargas-Poussou, Rosa, Blanchard, Anne, Conti, Giovanni, Boyer, Olivia, Dursun, Ismail, Pınarbaşı, Ayşe Seda, Melek, Engin, Miglinas, Mariu, Novo, Robert, Mallett, Andrew, Milosevic, Danko, Szczepanska, Maria, Wente, Sarah, Cheong, Hae Il, Sinha, Rajiv, Gucev, Zoran, Dufek, Stephanie, Iancu, Daniela, Kleta, Robert, Schaefer, Franz, Bockenhauer, Detlef, and Internal Medicine

Subjects
Male, glomerulus filtration rate, ATP6V1B1 protein, human, DNA Mutational Analysis, kidney calcification, distal renal tubular acidosis, Sensorineural, nephrocalcinosi, ATP6V1B1 gene, Renal tubular acidosis, 0302 clinical medicine, newborn, Chronic kidney disease, middle aged, Medicine, genetics, Young adult, Child, adult, cohort analysis, perception deafness, Sensorineural hearing loss, aged, Nephrocalcinosis, priority journal, Nephrology, Child, Preschool, Cohort, Acidosis, mutational analysis, Vacuolar Proton-Translocating ATPases, medicine.medical_specialty, Hearing Loss, Sensorineural, rare disease, Renal function, bicarbonate, complication, Article, 03 medical and health sciences, nephrocalcinosis, Humans, human, gross national product, Hearing Loss, Aged, Infant, economic aspect, Distal renal tubular acidosis, medicine.disease, major clinical study, proton transporting adenosine triphosphate synthase, Mutation, nephrolithiasis, estimated glomerular filtration rate, chronic kidney disease, SLC4A1 gene, 030232 urology & nephrology, Deafness, 030204 cardiovascular system & hematology, preschool child, sensorineural hearing loss, nephrolithiasi, Cohort Studies, distal renal tubular acidosi, Interquartile range, kidney tubule acidosis, gene mutation, kidney function, Acidosis, Renal Tubular, chronic kidney failure, Middle Aged, urine, female, genetic association study, medical care, body height, young adult, Female, Renal Tubular, Glomerular Filtration Rate, onset age, Adult, Adolescent, prevalence, Nephrolithiasis, Young Adult, Rare Diseases, primary distal renal tubular acidosis, blood, Internal medicine, follow up, gene, Preschool, outcome assessment, Genetic Association Studies, Transplantation, calcium, business.industry, Infant, Newborn, hearing impairment, Newborn, Bicarbonates, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Calcium, metabolic regulation, business, Kidney disease
Abstract

PubMedID: 30773598 Background. Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-Termoutcome. Methods. We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data in an online form. Results. Adequate data were collected on 340 patients (29 countries, female 52%). Mutation testing had been performed on 206 patients (61%); pathogenic mutations were identified in 170 patients (83%). The median (range) presentation age was 0.5 (0-54) years and age at last follow-up was 11.0 (0-70.0) years. Adult height was slightly below average with a mean (SD score) of -0.57 (61.16). There was an increased prevalence of chronic kidney disease (CKD) Stage -2 in children (35%) and adults (82%). Nephrocalcinosis was reported in 88%. Nephrolithiasis was more common with SLC4A1 mutations (42% versus 21%). Thirty-six percent had hearing loss, particularly in ATP6V1B1 (88%). The median (interquartile range) prescribed dose of alkali (mEq/kg/day) was 1.9 (1.2-3.3). Adequate metabolic control (normal plasma bicarbonate and normocalciuria) was achieved in 158 patients (51%), more commonly in countries with higher gross domestic product (67% versus 23%), and was associated with higher height and estimated glomerular filtration rate. Conclusion. Long-Term follow-up from this large dRTA cohort shows an overall favourable outcome with normal adult height for most and no patient with CKD Stage 5. However, 82% of adult patients have CKD Stages 2-4. Importance of adequate metabolic control was highlighted by better growth and renal function but was achieved in only half of patients. © The Author(s) 2018. Erciyes Üniversitesi Iran University of Medical Sciences Università degli Studi di Padova Chung Hua University American Ornithologists' Union University of Queensland 7Centre University College London Aristotle University of Thessaloniki Lunds Universitet Cairo University National Rosacea Society Heart of England NHS Foundation Trust Centre hospitalier universitaire Sainte-Justine Erasmus Universiteit Rotterdam Aristotle University of Thessaloniki 1Department of Paediatric Nephrology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK, 2Centre for Nephrology, University College London, London, UK, 3Division of Nephrology, Bambino Gesù Children’s Hospital—IRCCS, Rome, Italy, 4Pediatric Nephrology—CHU Arnaud de Villeneuve, Montpellier University Hospital, Montpellier, France, 5Ali-Asghar Clinical Research Development Center, Iran University of Medical Sciences, Tehran, Iran, 6Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland, 7Centre de référence Maladies rénales rares, Bron, France, 8ASST Niguarda, Milan, Italy, 9Department of Pediatrics, University Hospital of Cologne, Cologne, Germany, 10University Hospital Leuven, Leuven, Belgium, 11King Edward Memorial Hospital, Pune, India, 12Department of Pediatrics, Center of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt, 13Hospital Universitario Vall d’Hebron, Barcelona, Spain, 14Division of Pediatric Nephrology, NRS Medical College, Kolkata, India, 15Pediatric Nephrology, Dialysis and Transplant Unit, Azienda Ospedaliera & University of Padova, Padova, Italy, 16University Children’s Hospital, Medical School, Skopje, Macedonia, 17National Medical and Research Centre for Children’s Health, Moscow, Russia, 18Centre Hospitalier Universitaire de Toulouse, Service de Nephrologie Pediatrique, Hopital des Enfants, Centre De Reference des Maladies Rénales Rares du Sud Ouest, Toulouse, France, 19Hospital Universitario Central de Asturias, Oviedo, Spain, 20Radboud University Medical Centre, Nijmegen, The Netherlands, 21Nephrology and Dialysis Unit, Department of Woman, Child and Urological Diseases, Azienda Ospedaliero—Universitaria Sant’Orsola-Malpighi, Bologna, Italy, 22Charité Universitätsmedizin Berlin, Berlin, Germany, 23University Children’s Hospital, Münster, Germany, 24Wilhelmina Children’s Hospital, University Medical Center, Utrecht, The Netherlands, 25Centro Hospitalar de Lisboa Central, Lisbon, Portugal, 26Fourth Pediatric Department, Aristotle University, Thessaloniki, Greece, 27Lady Cilento Children’s Hospital, Brisbane, Australia, 28School of Medicine, the University of Queensland, Brisbane, Australia, 29Department of Pediatric Nephrology, Pamukkale University School of Medicine, Denizli, Turkey, 30Nephrology Unit Azienda Ospedaliera, Papa Giovani XXIII, Bergamo, Italy, 31Karolinska Institutet, Lund University,Sweden,GroupFlorenceNightingaleHospitals,Ist32· anbul, Turkey,Fondazione Policlinico A. Gemelli, Universita` Cattolica del33 Sacro Cuore, Rome, Italy, 34Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia, 35Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca’ Granda—Ospedale Maggiore Policlinico, Milan, Italy, 36Department of Translational Medical Sciences, University of Campania “L. Vanvitelli”, Naples, Italy, 37Pediatric Department, Lillebaelt Hospital Kolding, Kolding, Denmark, 38Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University Hospital of Heidelberg, Heidelberg, Germany, 39Haseki Education and Research Hospital, Istanbul, Turkey, 40Belarusian State Medical University, Minsk, Belarus, 41Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France, 42Pediatric Nephrology Unit, AOU Policlinic G Martino, Messina, Italy, 43Necker Hospital, Paris, France, 44Faculty of Medicine, Department of Pediatric Nephrology, Erciyes University, Kayseri, Turkey, 45Cukurova University, Adana, Turkey, 46Nephrology Centre, Santaros Klinikos, Vilnius University, Vilnius, Lithuania, 47University Hospital of Lille, France, 48Department of Renal Medicine, Royal Brisbane and Women’s Hospital, Brisbane, Australia, 49University Hospital Centre Zagreb, Zagreb, Croatia, 50Department of Pediatrics, SMDZ in Zabrze, SUM in Katowice, Poland, 51Department of Pediatric Nephrology, Hannover Medical School, Hannover, Germany, The European dRTA Consortium consists of the authors, as well as: Amira Peco-Antic(Department of Nephrology, University Children’s Hospital, Belgrade, Serbia), Amrit Kaur (Department of Paediatric Nephrology, Royal Manchester Children’s Hospital, Manchester, UK), Antonino Paglialunga (ASP de Ragusa, Modica, Italy), Aude Servais (Department of Nephrology, Centre Hospitalier Universitaire Necker, APHP, Paris, France), Branko Lutovac (Clinical Centre of Montenegro, Institute for Children’s Disease, Podgorica, Montenegro), Ewout J. Hoorn (Erasmus Medical Center, Rotterdam, The Netherlands), Hadas Shasha-Lavsky (Galilee Medical Center, Nahariya, Israel), Jerome Harambat (Pediatric Nephrology Unit, Bordeaux University Hospital, Bordeaux, France), Astrid Godron-Dubrasquet (Pediatric Nephrology Unit, Bordeaux University Hospital, Bordeaux, France), Kathrin Buder (Pediatric Department, University Hospital, Carl Gustav Carus Dresden, Dresden, Germany), Lise Allard (Department of Pediatrics, Angers University Hospital, Angers, France), Ludwig Patzer (Children’s Hospital St Elisabeth and St Barbara, Halle, Germany), Marina Shumikhina (Filatov Children’s Clinical Hospital No. 13, Moscow, Russia), Matthias Hansen (KfH Centre of Paediatric Nephrology, Clementine Children’s Hospital, Frankfurt, Germany), Nikoleta Printza (First Pediatric Department, Aristotle University, Thessaloniki, Greece), Nuran Küc¸ük (Kartal Dr. Lütfi Kırdar Training and Research Hospital, İstanbul, Turkey), Ortraud Beringer (University Children’s Hospital, Ulm, Germany), Rajendra Bhimma (Inkosi Albert Luthuli, Central Hospital, Durban, South Africa), Rimante Cerkauskiene (Faculty of Medicine, Children’s Hospital, Vilnius University, Vilnius, Lithuania; Santaros Klinikos, Vilnius University Hospital, Vilnius, Lithuania), Thomas J. Neuhaus (Children’s Hospital of Lucerne, Cantonal Hospital of Lucerne, Lucerne, Switzerland), Valbona Stavileci (Pediatric Clinic, Prishtina, Kosovo), Tim Ulinski (Pediatric Nephrology Department, Armand Trousseau University Hospital, APHP, Paris, France), Nida Temizkan Dincel (Health Sciences University, Izmir Dr Behcet Uz Children’s Hospital, İzmir, Turkey) and Nilufar Mohebbi (Division of Nephrology, University Hospital Zurich, Zurich, Switzerland)

Published
2019

23. Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency

Author

Akin, Leyla, primary, Rizzoti, Karine, additional, Gregory, Louise C., additional, Corredor, Beatriz, additional, Le Quesne Stabej, Polona, additional, Williams, Hywel, additional, Buonocore, Federica, additional, Mouilleron, Stephane, additional, Capra, Valeria, additional, McGlacken-Byrne, Sinead M., additional, Martos-Moreno, Gabriel Á., additional, Azmanov, Dimitar N., additional, Kendirci, Mustafa, additional, Kurtoglu, Selim, additional, Suntharalingham, Jenifer P., additional, Galichet, Christophe, additional, Gustincich, Stefano, additional, Tasic, Velibor, additional, Achermann, John C., additional, Accogli, Andrea, additional, Filipovska, Aleksandra, additional, Tuilpakov, Anatoly, additional, Maghnie, Mohamad, additional, Gucev, Zoran, additional, Gonen, Zeynep Burcin, additional, Pérez-Jurado, Luis A., additional, Robinson, Iain, additional, Lovell-Badge, Robin, additional, Argente, Jesús, additional, and Dattani, Mehul T., additional

Published
2022
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24. The Landscape of Mucopolysaccharidosis in Southern and Eastern European Countries: A Survey from 19 Specialistic Centers.

Author

Tylki-Szymańska, Anna, primary, Almássy, Zsuzsanna, additional, Anastasiadou, Violetta Christophidou, additional, Avdjieva-Tzavella, Daniela, additional, Barisic, Ingeborg, additional, Cerkauskiene, Rimante, additional, Cuturilo, Goran, additional, Djiordjevic, Maja, additional, Gucev, Zoran, additional, Hlavata, Anna, additional, Kieć-Wilk, Beata, additional, Magner, Martin, additional, Pecin, Ivan, additional, Plaiasu, Vasilica, additional, Samardzic, Mira, additional, Zafeiriou, Dimitrios, additional, Zaganas, Ioannis, additional, and Lampe, Christina, additional

Published
2021
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26. TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

Author

Wu, Nan, Ming, Xuan, Xiao, Jianqiu, Wu, Zhihong, Chen, Xiaoli, Shinawi, Marwan, Shen, Yiping, Yu, Guangju, Liu, Jiaqi, Xie, Hua, Gucev, Zoran S., Liu, Sen, Yang, Nan, Al-Kateb, Hussam, Chen, Jun, Zhang, Jian, Hauser, Natalie, Zhang, Ting, Tasic, Velibor, Liu, Pengfei, Su, Xinlin, Pan, Xuedong, Liu, Chunyu, Wang, Liwen, Shen, Joseph, Shen, Jianxiong, Chen, Yulin, Zhang, Ting, Zhang, Jianguo, Choy, Kwong Wai, Wang, Jun, Wang, Qiqi, Li, Shugang, Zhou, Weichen, Guo, Jin, Wang, Yipeng, Zhang, Cheng, Zhao, Hong, An, Yu, Zhao, Yu, Wang, Jiucun, Liu, Zhenlei, Zuo, Yuzhi, Tian, Ye, Weng, Xisheng, Sutton, Reid V., Wang, Hongyan, Ming, Yue, Kulkarni, Shashikant, Zhong, Tao P., Giampietro, Philip F., Dunwoodie, Sally L., Cheung, Sau Wai, Zhang, Xue, Jin, Li, Lupski, James R., Qiu, Guixing, and Zhang, Feng

Published
2015
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27. Contributors

Author

Achermann, John C., primary, Auchus, Richard J., additional, Audran, Francoise, additional, Barseghyan, Hayk, additional, Beuschlein, Felix, additional, Bhangoo, Amrit, additional, Biason-Lauber, Anna, additional, Carvalho, Filomena Marino, additional, Cate, Richard L., additional, Coll, Mauricio, additional, Costa, Elaine M.F., additional, Dluhy, Robert G., additional, Domenice, Sorahia, additional, Flück, Christa E., additional, Funder, John W., additional, Gaspari, Laura, additional, Giordano, Thomas J., additional, Grumbach, Melvin M., additional, Gucev, Zoran S., additional, Halperin, Florencia, additional, Hammer, Gary D., additional, Inacio, Marlene, additional, Josso, Nathalie, additional, Kalfa, Nicolas, additional, Krishnan, Sowmya, additional, Kuhnle, Ursula, additional, Lekarev, Oksana, additional, Lerario, Antonio M., additional, Lin-Su, Karen, additional, Lonard, David M., additional, Machado, Aline Z., additional, Maimoun, Laurent, additional, Mancenido, Denesy, additional, Martin, Regina M., additional, Melmed, Shlomo, additional, Mendonca, Berenice B., additional, Meyer-Bahlburg, Heino F.L., additional, Miller, Walter L., additional, Morel, Yves, additional, New, Maria I., additional, Nimkarn, Saroj, additional, Nishi, Mirian Y., additional, O’Malley, Bert W., additional, Oliveira Junior, Ari A., additional, Pandey, Amit V., additional, Paris, Françoise, additional, Parsa, Alan, additional, Philibert, Pascal, additional, Picard, Jean-Yves, additional, Plotton, Ingrid, additional, Reichman, David E., additional, Reisch, Nicole, additional, Rink, Richard C., additional, Rosenwaks, Zev, additional, Roucher, Florence, additional, Russell, Jonathan F., additional, Russell, David W., additional, Simard, Jacques, additional, Simpson, Joe Leigh, additional, Speiser, Phyllis W., additional, Sultan, Charles, additional, Ten, Svetlana, additional, Tibor, Francisco Denes, additional, Vilain, Eric, additional, White, Perrin C., additional, Whittam, Benjamin, additional, Wilson, Jean D., additional, Wisniewski, Amy B., additional, Wong, Jenise C., additional, Xing, Yewei, additional, Yau, Mabel, additional, and Yuen, Tony, additional

Published
2014
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29. 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

32. Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly--questions

Author

Tasic, Velibor, Lozanovski, Vladimir J., Gucev, Zoran, Blau, Nenad, Cheong, Hae Il, and Sayer, John A.

Subjects
Furosemide, Genetic disorders, Failure to thrive, Health
Abstract

Case summary A 3-year-old boy from Kosovo was referred to us for evaluation of failure to thrive and an episode of macroscopic hematuria. He was the son of healthy nonconsanguineous [...]

Published
2011
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33. Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3

Author

Macedo, Delanie B., Abreu, Ana Paula, Reis, Ana Claudia S., Montenegro, Luciana R., Dauber, Andrew, Beneduzzi, Daiane, Cukier, Priscilla, Silveira, Leticia F. G., Teles, Milena G., Carroll, Rona S., Junior, Gil Guerra, Filho, Guilherme Guaragna, Gucev, Zoran, Arnhold, Ivo J. P., de Castro, Margaret, Moreira, Ayrton C., Martinelli, Carlos Eduardo, Jr, Hirschhorn, Joel N., Mendonca, Berenice B., Brito, Vinicius N., Antonini, Sonir R., Kaiser, Ursula B., and Latronico, Ana Claudia

Published
2014

37. Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux

Author

Verbitsky, Miguel, primary, Krithivasan, Priya, additional, Batourina, Ekaterina, additional, Khan, Atlas, additional, Graham, Sarah E., additional, Marasà, Maddalena, additional, Kim, Hyunwoo, additional, Lim, Tze Y., additional, Weng, Patricia L., additional, Sánchez-Rodríguez, Elena, additional, Mitrotti, Adele, additional, Ahram, Dina F., additional, Zanoni, Francesca, additional, Fasel, David A., additional, Westland, Rik, additional, Sampson, Matthew G., additional, Zhang, Jun Y., additional, Bodria, Monica, additional, Kil, Byum Hee, additional, Shril, Shirlee, additional, Gesualdo, Loreto, additional, Torri, Fabio, additional, Scolari, Francesco, additional, Izzi, Claudia, additional, van Wijk, Joanna A.E., additional, Saraga, Marijan, additional, Santoro, Domenico, additional, Conti, Giovanni, additional, Barton, David E., additional, Dobson, Mark G., additional, Puri, Prem, additional, Furth, Susan L., additional, Warady, Bradley A., additional, Pisani, Isabella, additional, Fiaccadori, Enrico, additional, Allegri, Landino, additional, Degl'Innocenti, Maria Ludovica, additional, Piaggio, Giorgio, additional, Alam, Shumyle, additional, Gigante, Maddalena, additional, Zaza, Gianluigi, additional, Esposito, Pasquale, additional, Lin, Fangming, additional, Simões-e-Silva, Ana Cristina, additional, Brodkiewicz, Andrzej, additional, Drozdz, Dorota, additional, Zachwieja, Katarzyna, additional, Miklaszewska, Monika, additional, Szczepanska, Maria, additional, Adamczyk, Piotr, additional, Tkaczyk, Marcin, additional, Tomczyk, Daria, additional, Sikora, Przemyslaw, additional, Mizerska-Wasiak, Malgorzata, additional, Krzemien, Grazyna, additional, Szmigielska, Agnieszka, additional, Zaniew, Marcin, additional, Lozanovski, Vladimir J., additional, Gucev, Zoran, additional, Ionita-Laza, Iuliana, additional, Stanaway, Ian B., additional, Crosslin, David R., additional, Wong, Craig S., additional, Hildebrandt, Friedhelm, additional, Barasch, Jonathan, additional, Kenny, Eimear E., additional, Loos, Ruth J.F., additional, Levy, Brynn, additional, Ghiggeri, Gian Marco, additional, Hakonarson, Hakon, additional, Latos-Bieleńska, Anna, additional, Materna-Kiryluk, Anna, additional, Darlow, John M., additional, Tasic, Velibor, additional, Willer, Cristen, additional, Kiryluk, Krzysztof, additional, Sanna-Cherchi, Simone, additional, Mendelsohn, Cathy L., additional, and Gharavi, Ali G., additional

Published
2021
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38. Two cases of non-syndromic congenital unilateral breast hypoplasia in one family

Author

Krstevska-Konstantinova, Marina, Kuzevska-Maneva, Konstandina, Sukarova-Angelovska, Elena, Stamatova, Ana, Tasic, Velibor, Gucev, Zoran, and Hаefele, Julia

Subjects
микромастија, хипоплазија на дојки, пубертетски аномалии, breast hypoplasia, micromastia, pubertal abnormalities
Abstract

Micromastia or breast hypoplasia is described as underdevelopment of a woman’s mammary tissue. We present the case of a 15-year-old girl with unilateral micromastia, with familial predisposition. Ultrasound, hormonal, dysmorphic, cardiologic, genetic examinations and testing were performed. No mutation in the whole- exome sequencing was found, nor novel mutation. Some of these cases have been reported to be related to breаst cancer so further follow-up is mandatory. Therapy consists of surgical reconstruction of the affected breast. This is a rare condition and it requires a multidisciplinary approach., Микромастија или хипоплазија на дојки е опишана како недоразвиеност на ткивото на дојката кај жените. Опишавме случај на 15-годишно девојче со унилатерална микромастија со фамилијарна предиспозиција. Беа направени ехосонографски, хормонални, дисморфични, кардиолошки и генетски испитувања и тестови. Не беше пронајдена мутација на целокупниот секвенциониран ексом, ниту пак нова мутација. Некои од овие случаи се прикажани како да се поврзани со канцер на дојката и затоа се потребни понатамошни задолжителни следења. Терапијата се состои од хируршка реконструкција на афектираната дојка. Ова претставува ретка состојба, но бара мултидисциплинарен пристап.

Published
2020

39. Rare heterozygous GDF6 variants in patients with renal anomalies

Author

Martens, Helge; https://orcid.org/0000-0002-7294-3476, Hennies, Imke, Getwan, Maike, Christians, Anne, Weiss, Anna-Carina, Brand, Frank, Gjerstad, Ann Christin, Christians, Arne, Gucev, Zoran, Geffers, Robert, Seeman, Tomáš, Kispert, Andreas, Tasic, Velibor; https://orcid.org/0000-0002-3377-1245, Bjerre, Anna, Lienkamp, Soeren Sten; https://orcid.org/0000-0003-2963-6865, Haffner, Dieter; https://orcid.org/0000-0002-9601-7813, Weber, Ruthild G; https://orcid.org/0000-0001-6610-1080, Martens, Helge; https://orcid.org/0000-0002-7294-3476, Hennies, Imke, Getwan, Maike, Christians, Anne, Weiss, Anna-Carina, Brand, Frank, Gjerstad, Ann Christin, Christians, Arne, Gucev, Zoran, Geffers, Robert, Seeman, Tomáš, Kispert, Andreas, Tasic, Velibor; https://orcid.org/0000-0002-3377-1245, Bjerre, Anna, Lienkamp, Soeren Sten; https://orcid.org/0000-0003-2963-6865, Haffner, Dieter; https://orcid.org/0000-0002-9601-7813, and Weber, Ruthild G; https://orcid.org/0000-0001-6610-1080

Abstract

Although over 50 genes are known to cause renal malformation if mutated, the underlying genetic basis, most easily identified in syndromic cases, remains unsolved in most patients. In search of novel causative genes, whole-exome sequencing in a patient with renal, i.e., crossed fused renal ectopia, and extrarenal, i.e., skeletal, eye, and ear, malformations yielded a rare heterozygous variant in the GDF6 gene encoding growth differentiation factor 6, a member of the BMP family of ligands. Previously, GDF6 variants were reported to cause pleiotropic defects including skeletal, e.g., vertebral, carpal, tarsal fusions, and ocular, e.g., microphthalmia and coloboma, phenotypes. To assess the role of GDF6 in the pathogenesis of renal malformation, we performed targeted sequencing in 193 further patients identifying rare GDF6 variants in two cases with kidney hypodysplasia and extrarenal manifestations. During development, gdf6 was expressed in the pronephric tubule of Xenopus laevis, and Gdf6 expression was observed in the ureteric tree of the murine kidney by RNA in situ hybridization. CRISPR/Cas9-derived knockout of Gdf6 attenuated migration of murine IMCD3 cells, an effect rescued by expression of wild-type but not mutant GDF6, indicating affected variant function regarding a fundamental developmental process. Knockdown of gdf6 in Xenopus laevis resulted in impaired pronephros development. Altogether, we identified rare heterozygous GDF6 variants in 1.6% of all renal anomaly patients and 5.4% of renal anomaly patients additionally manifesting skeletal, ocular, or auricular abnormalities, adding renal hypodysplasia and fusion to the phenotype spectrum of GDF6 variant carriers and suggesting an involvement of GDF6 in nephrogenesis.

Published
2020

40. Universal Health Coverage “Leave No Child Behind “

Author

Siderius, Liesbeth, primary, Neubauer, David, additional, Bhattacharya, Anjan, additional, Altorjai, Péter, additional, Margvelashvili, Lali, additional, Copley, Sian, additional, Lamabadusuriya, Sanath, additional, Mazur, Artur, additional, Albrecht, Piotr, additional, Giessen, Jet van, additional, Gucev, Zoran, additional, and Tasic, Velibor, additional

Published
2020
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48. Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies

Author

Riedhammer, Korbinian M., primary, Braunisch, Matthias C., additional, Günthner, Roman, additional, Wagner, Matias, additional, Hemmer, Clara, additional, Strom, Tim M., additional, Schmaderer, Christoph, additional, Renders, Lutz, additional, Tasic, Velibor, additional, Gucev, Zoran, additional, Nushi-Stavileci, Valbona, additional, Putnik, Jovana, additional, Stajić, Nataša, additional, Weidenbusch, Marc, additional, Uetz, Barbara, additional, Montoya, Carmen, additional, Strotmann, Peter, additional, Ponsel, Sabine, additional, Lange-Sperandio, Baerbel, additional, and Hoefele, Julia, additional

Published
2020
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50. A Comprehensive Cohort Analysis Comparing Growth and GH Therapy Response in IGF1R Mutation Carriers and SGA Children

Author

Göpel, Eric, primary, Rockstroh, Denise, primary, Pfäffle, Heike, primary, Schlicke, Marina, primary, Pozza, Susanne Bechtold-Dalla, primary, Gannagé-Yared, Marie-Hélène, primary, Gucev, Zoran, primary, Mohn, Angelika, primary, Harmel, Eva-Maria, primary, Volkmann, Julia, primary, Weihrauch-Blüher, Susann, primary, Gausche, Ruth, primary, Bogatsch, Holger, primary, Beger, Christoph, primary, Klammt, Jürgen, primary, and Pfäffle, Roland, primary

Published
2019
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