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1. Intraoperative radiofrequency ablation for unresectable abdominal paraganglioma: a case report

Author

Magalhaes, Isabelle P. A., primary, Boger, Bibiana D., additional, Gomes, Nathalia L., additional, Martins, Guilherme L. P., additional, Bomfim, Leomarques A., additional, Fagundes, Gustavo F. C., additional, Rocha, Roberta S., additional, Coelho, Fernando M. A., additional, Chambo, Jose L., additional, Latronico, Ana Claudia, additional, Fragoso, Maria Candida B. V., additional, Hoff, Ana O., additional, Mendonca, Berenice B., additional, Menezes, Marcos R., additional, and Almeida, Madson Q., additional

Published
2024
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2. SAT307 Intraoperative Radiofrequency Ablation Of An Unresectable Abdominal Paraganglioma Promoted Objective Tumor Response And Complete Biochemical Remission

Author

de Magalhães, Isabelle P A, primary, Boger, Bibiana S, additional, Gomes, Nathalia L R A, additional, Martins, Guilherme L P, additional, Bomfim, Leomarques A, additional, Fagundes, Gustavo F C, additional, Afonso, Ana Caroline F, additional, Petenuci, Janaina, additional, Coelho, Fernando M A, additional, Srougi, Victor, additional, Tanno, Fabio Y, additional, Chambo, Jose L, additional, Latronico, Ana Claudia, additional, Fragoso, Maria Candida B V, additional, Hoff, Ana O, additional, Mendonca, Berenice B, additional, Menezes, Marcos R, additional, and Almeida, Madson Q, additional

Published
2023
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4. Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

Author

Baetens, Dorien, Güran, Tülay, Mendonca, Berenice B, Gomes, Nathalia L, De Cauwer, Lode, Peelman, Frank, Verdin, Hannah, Vuylsteke, Marnik, Van der Linden, Malaïka, ESR2 STUDY GROUP, Atay, Zeynep, Bereket, Abdullah, de Krijger, Ronald R, Preter, Katleen de, Domenice, Sorahia, Turan, Serap, Stoop, Hans, Looijenga, Leendert H, De Bosscher, Karolien, Cools, Martine, and De Baere, Elfride

Published
2018
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5. Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature

Author

Andrade, Nathalia Liberatoscioli Menezes, primary, Funari, Mariana Ferreira de Assis, additional, Malaquias, Alexsandra Christianne, additional, Collett-Solberg, Paulo Ferrez, additional, Gomes, Nathalia L R A, additional, Scalco, Renata, additional, Dantas, Naiara Castelo Branco, additional, Rezende, Raissa C, additional, Tiburcio, Angelica M F P, additional, Souza, Micheline A R, additional, Freire, Bruna L, additional, Krepischi, Ana C V, additional, Longui, Carlos Alberto, additional, Lerario, Antonio Marcondes, additional, Arnhold, Ivo J P, additional, Jorge, Alexander A L, additional, and Vasques, Gabriela Andrade, additional

Published
2022
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7. Supplemental Table 1: Genes associated with isolated short stature (bold) and candidated genes included in the targeted panel sequencing applied for genetic investigation of children with idiopathic short stature

Author

Andrade, Nathalia L. M., Funari, Mariana F A, Alexsandra C. Malaquias, Collett-Solberg, Paulo Ferrez, Gomes, Nathalia L. R. A., Scalco, Renata C, Naiara C. B. Dantas, Rezende, Raissa C., Tib��rcio, Angelica M. F. P., Souza, Micheline A. R., Freire, Bruna, Krepischi, Ana CV, Longui, Carlos, Lerario, Antonio Marcondes, Arnhold, Ivo, Jorge, Alexander A L, and Vasques, Gabriela A

Published
2022
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8. WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease

Author

Ferrari, Maria T.M., primary, Watanabe, Andreia, additional, da Silva, Thatiane E., additional, Gomes, Nathalia L., additional, Batista, Rafael L., additional, Nishi, Mirian Y., additional, de Paula, Leila C.P., additional, Costa, Eduardo C., additional, Costa, Elaine M.F., additional, Cukier, Priscilla, additional, Onuchic, Luiz F., additional, Mendonca, Berenice B., additional, and Domenice, Sorahia, additional

Published
2021
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9. WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease.

Author

Ferrari, Maria T.M., Watanabe, Andreia, da Silva, Thatiane E., Gomes, Nathalia L., Batista, Rafael L., Nishi, Mirian Y., de Paula, Leila C.P., Costa, Eduardo C., Costa, Elaine M.F., Cukier, Priscilla, Onuchic, Luiz F., Mendonca, Berenice B., and Domenice, Sorahia

Subjects
NEPHROBLASTOMA, KIDNEY diseases, CHRONIC kidney failure, PHENOTYPES, DISEASE progression
Abstract

Wilms' tumor suppressor gene 1 (WT1) plays an essential role in urogenital and kidney development. Heterozygous germline pathogenic allelic variants of WT1 have been classically associated with Denys–Drash syndrome (DDS) and Frasier syndrome (FS). Usually, exonic pathogenic missense variants in the zinc finger region are the cause of DDS, whereas pathogenic variants affecting the canonic donor lysine-threonine-serine splice site in intron 9 cause FS. Phenotypic overlap between WT1 disorders has been frequently observed. New WT1 variant-associated phenotypes, such as 46,XX testicular/ovarian-testicular disorders of sex development (DSD) and primary ovarian insufficiency, have been reported. In this report, we describe the phenotypes and genotypes of 7 Brazilian patients with pathogenic WT1 variants. The molecular study involved Sanger sequencing and massively parallel targeted sequencing using a DSD-associated gene panel. Six patients (5 with a 46,XY karyotype and 1 with a 46,XX karyotype) were initially evaluated for atypical genitalia, and a 46,XY patient with normal female genitalia sought medical attention for primary amenorrhea. Germ cell tumors were identified in 2 patients, both with variants affecting alternative splicing of WT1 between exons 9 and 10. Two pathogenic missense WT1 variants were identified in two 46,XY individuals with Wilms' tumors; both patients were <1 year of age at the time of diagnosis. A novel WT1 variant, c.1453_1456 (p.Arg485Glyfs*14), was identified in a 46,XX patient with testicular DSD. Nephrotic proteinuria was diagnosed in all patients, including 3 who underwent renal transplantation after progressing to end-stage kidney disease. The expanding phenotypic spectrum associated with WT1 variants in XY and XX individuals confirms their pivotal role in gonadal and renal development as well as in tumorigenesis, emphasizing the clinical implications of these variants in genetic diagnosis. [ABSTRACT FROM AUTHOR]

Published
2022
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10. Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development

Author

Sproll, Patrick, Eid, Wassim, Gomes, Camila R., Mendonca, Berenice B., Gomes, Nathalia L., Costa, Elaine M.-F., and Biason-Lauber, Anna

Abstract

Background One of the defining moments of human life occurs early during embryonic development, when individuals sexually differentiate into either male or female. Perturbation of this process can lead to disorders/differences of sex development (DSD). Chromobox protein homolog 2 (CBX2) has two distinct isoforms, CBX2.1 and CBX2.2: the role of CBX2.1 in DSD has been previously established, yet to date the function of the smaller isoform CBX2.2 remains unknown. Methods The genomic DNA of two 46,XY DSD patients was analysed using whole exome sequencing. Furthermore, protein/DNA interaction studies were performed using DNA adenine methyltransferase identification (DamID) to identify putative binding partners of CBX2. Finally, in vitro functional studies were used to elucidate the effect of wild-type and variant CBX2.2 on selected downstream targets. Results Here, we describe two patients with features of DSD i.e. atypical external genitalia, perineal hypospadias and no palpable gonads, each patient carrying a distinct CBX2.2 variant, p.Cys132Arg (c.394T>C) and p.Cys154fs (c.460delT). We show that both CBX2.2 variants fail to regulate the expression of genes essential for sexual development, leading to a severe 46,XY DSD defect, likely because of a defective expression of EMX2 in the developing gonad. Conclusion Our study indicates a distinct function of the shorter form of CBX2 and by identifying several of its unique targets, can advance our understanding of DSD pathogenesis and ultimately DSD diagnosis and management.

Published
2018

11. Low frequency of pathogenic allelic variants in the 46,XY differences of sex development (DSD)-related genes in small for gestational age children with hypospadias

Author

Braga, Barbara L., primary, Gomes, Nathalia L., additional, Nishi, Mirian Yumie, additional, Freire, Bruna Lucheze, additional, Batista, Rafael Loch, additional, Lerario, Antonio Marcondes, additional, de Assis Funari, Mariana Ferreira, additional, Frade Costa, Elaine Maria, additional, Domenice, Sorahia, additional, Faria Junior, José Antonio D., additional, Lima Jorge, Alexander Augusto, additional, and Mendonca, Berenice Bilharinho, additional

Published
2019
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12. Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein

Author

Chamberlin, Adam, primary, Huether, Robert, additional, Machado, Aline Z, additional, Groden, Michael, additional, Liu, Hsiao-Mei, additional, Upadhyay, Kinnari, additional, O, Vivian, additional, Gomes, Nathalia L, additional, Lerario, Antonio M, additional, Nishi, Mirian Y, additional, Costa, Elaine M F, additional, Mendonca, Berenice, additional, Domenice, Sorahia, additional, Velasco, Jacqueline, additional, Loke, Johnny, additional, and Ostrer, Harry, additional

Published
2019
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13. Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

Author

Pathologie Pathologen staf, Baetens, Dorien, Güran, Tülay, Mendonca, Berenice B., Gomes, Nathalia L., De Cauwer, Lode, Peelman, Frank, Verdin, Hannah, Vuylsteke, Marnik, Van Der Linden, Malaïka, Atay, Zeynep, Bereket, Abdullah, De Krijger, Ronald R., De Preter, Katleen, Domenice, Sorahia, Turan, Serap, Stoop, Hans, Looijenga, Leendert H., De Bosscher, Karolien, Cools, Martine, De Baere, Elfride, ESR2 Study Group, Pathologie Pathologen staf, Baetens, Dorien, Güran, Tülay, Mendonca, Berenice B., Gomes, Nathalia L., De Cauwer, Lode, Peelman, Frank, Verdin, Hannah, Vuylsteke, Marnik, Van Der Linden, Malaïka, Atay, Zeynep, Bereket, Abdullah, De Krijger, Ronald R., De Preter, Katleen, Domenice, Sorahia, Turan, Serap, Stoop, Hans, Looijenga, Leendert H., De Bosscher, Karolien, Cools, Martine, De Baere, Elfride, and ESR2 Study Group

Published
2018

14. DEAH-box helicase 37 (DHX37) defects are a novel molecular etiology of 46,XY gonadal dysgenesis spectrum

Author

Silva, Thatiana E. da, primary, Gomes, Nathalia L., additional, Lerario, Antonio M., additional, Keegan, Catherine E., additional, Nishi, Mirian Y., additional, Carvalho, Filomena M., additional, Vilain, Eric, additional, Barseghyan, Hayk, additional, Martinez-Aguayo, Alejandro, additional, Forclaz, María V., additional, Papazian, Regina, additional, Carvalho, Luciani R., additional, Costa, Elaine M. F., additional, Mendonca, Berenice B., additional, and Domenice, Sorahia, additional

Published
2018
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15. A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor‐1 ( WT1 ) pathogenic variant

Author

Gomes, Nathalia L., primary, de Paula, Leila C.P., additional, Silva, Juliana M., additional, Silva, Thatiana E., additional, Lerário, Antônio M., additional, Nishi, Mirian Y., additional, Batista, Rafael L., additional, Faria Júnior, José A. D., additional, Moraes, Daniela, additional, Costa, Elaine M.F., additional, Hemesath, Tatiana P., additional, Guaragna‐Filho, Guilherme, additional, Leite, Júlio C.L., additional, Carvalho, Clarissa G., additional, Domenice, Sorahia, additional, Costa, Eduardo C., additional, and Mendonca, Berenice B., additional

Published
2018
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17. Long‐term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis

Author

Gomes, Nathalia L., primary, Lerário, Antônio Marcondes, additional, Machado, Aline Zamboni, additional, Moraes, Daniela Rodrigues de, additional, Silva, Thatiana Evilen da, additional, Arnhold, Ivo J. P., additional, Batista, Rafael Loch, additional, Faria Júnior, José Antônio Diniz, additional, Costa, Elaine F., additional, Nishi, Mirian Y., additional, Inacio, Marlene, additional, Domenice, Sorahia, additional, and Mendonca, Berenice B., additional

Published
2018
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18. A severe phenotype of Kennedy disease associated with a very large CAG repeat expansion

Author

Madeira, João L. O., primary, Souza, Alexandre B. C., additional, Cunha, Flavia S., additional, Batista, Rafael L., additional, Gomes, Nathalia L., additional, Rodrigues, Andresa S., additional, Mennucci de Haidar Jorge, Frederico, additional, Chadi, Gerson, additional, Callegaro, Dagoberto, additional, Mendonca, Berenice B., additional, Costa, Elaine M. F., additional, and Domenice, Sorahia, additional

Published
2017
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19. A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor‐1 (WT1) pathogenic variant.

Author

Gomes, Nathalia L., Silva, Juliana M., Silva, Thatiana E., Batista, Rafael L., Faria Júnior, José A. D., Moraes, Daniela, Costa, Elaine M.F., Domenice, Sorahia, Nishi, Mirian Y., Mendonca, Berenice B., de Paula, Leila C.P., Hemesath, Tatiana P., Guaragna‐Filho, Guilherme, Leite, Júlio C.L., Carvalho, Clarissa G., Costa, Eduardo C., and Lerário, Antônio M.

Subjects
*GENITAL abnormalities, *SEX differentiation disorders, *TESTIS, *NEPHROBLASTOMA, GONADAL diseases
Abstract

Molecular diagnosis is rarely established in 46,XX testicular (T) disorder of sex development (DSD) individuals with atypical genitalia. The Wilms' tumour factor‐1 (WT1) gene is involved in early gonadal development in both sexes. Classically, WT1 deleterious variants are associated with 46,XY disorders of sex development (DSD) because of gonadal dysgenesis. We report a novel frameshift WT1 variant identified in an SRY‐negative 46,XX testicular DSD girl born with atypical genitalia. Target massively parallel sequencing involving DSD‐related genes identified a novel heterozygous WT1 c.1453_1456del; p.Arg485Glyfs*14 variant located in the fourth zinc finger of the protein which is absent in the population databases. Segregation analysis and microsatellite analysis confirmed the de novo status of the variant that is predicted to be deleterious by in silico tools and to increase WT1 target activation in crystallographic model. This novel and predicted activating frameshift WT1 variant leading to the 46,XX testicular DSD phenotype includes the fourth zinc‐finger DNA‐binding domain defects in the genetic aetiology of 46,XX DSD. [ABSTRACT FROM AUTHOR]

Published
2019
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20. Biallelic and monoallelic ESR2variants associated with 46,XY disorders of sex development

Author

Baetens, Dorien, Güran, Tülay, Mendonca, Berenice B., Gomes, Nathalia L., De Cauwer, Lode, Peelman, Frank, Verdin, Hannah, Vuylsteke, Marnik, Van der Linden, Malaïka, Stoop, Hans, Looijenga, Leendert H., De Bosscher, Karolien, Cools, Martine, De Baere, Elfride, Atay, Zeynep, Bereket, Abdullah, de Krijger, Ronald R., Preter, Katleen de, Domenice, Sorahia, and Turan, Serap

Abstract

Disorders or differences of sex development (DSDs) are rare congenital conditions characterized by atypical sex development. Despite advances in genomic technologies, the molecular cause remains unknown in 50% of cases.

Published
2018
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21. Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development

Author

Sproll, Patrick, Eid, Wassim, Gomes, Camila R., Mendonca, Berenice B., Gomes, Nathalia L., Costa, Elaine M.-F., Biason-Lauber, Anna, Sproll, Patrick, Eid, Wassim, Gomes, Camila R., Mendonca, Berenice B., Gomes, Nathalia L., Costa, Elaine M.-F., and Biason-Lauber, Anna

Abstract

Background One of the defining moments of human life occurs early during embryonic development, when individuals sexually differentiate into either male or female. Perturbation of this process can lead to disorders/differences of sex development (DSD). Chromobox protein homolog 2 (CBX2) has two distinct isoforms, CBX2.1 and CBX2.2: the role of CBX2.1 in DSD has been previously established, yet to date the function of the smaller isoform CBX2.2 remains unknown. Methods The genomic DNA of two 46,XY DSD patients was analysed using whole exome sequencing. Furthermore, protein/DNA interaction studies were performed using DNA adenine methyltransferase identification (DamID) to identify putative binding partners of CBX2. Finally, in vitro functional studies were used to elucidate the effect of wild-type and variant CBX2.2 on selected downstream targets. Results Here, we describe two patients with features of DSD i.e. atypical external genitalia, perineal hypospadias and no palpable gonads, each patient carrying a distinct CBX2.2 variant, p.Cys132Arg (c.394T>C) and p.Cys154fs (c.460delT). We show that both CBX2.2 variants fail to regulate the expression of genes essential for sexual development, leading to a severe 46,XY DSD defect, likely because of a defective expression of EMX2 in the developing gonad. Conclusion Our study indicates a distinct function of the shorter form of CBX2 and by identifying several of its unique targets, can advance our understanding of DSD pathogenesis and ultimately DSD diagnosis and management.

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