Single nucleotide variants in a family of monozygotic twins discordant for the phenotype congenital megaureter: a genomic analysis

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dc.creatorAugusto César Santos Junior
dc.creatorLuciana Bastos Rodrigues
dc.creatorRaoni Cardenas
dc.creatorPatricia Gonçalves Pereira Couto
dc.creatorLuiz Armando Cunha de Marco
dc.creatorEduardo Araújo Oliveira
dc.creatorDébora Marques Miranda
dc.creatorAna Cristina Simões e Silva
dc.date.accessioned2023-07-18T20:13:16Z
dc.date.accessioned2025-09-08T22:57:03Z
dc.date.available2023-07-18T20:13:16Z
dc.date.issued2017-05-30
dc.format.mimetypepdf
dc.identifier.doihttp://doi.org/10.2174/1874303X01710010011
dc.identifier.issn1874-303X
dc.identifier.urihttps://hdl.handle.net/1843/56624
dc.languageeng
dc.publisherUniversidade Federal de Minas Gerais
dc.relation.ispartofThe Open Urology & Nephrology Journal
dc.rightsAcesso Aberto
dc.subjectMedicina
dc.subjectGêmeos
dc.subject.otherCAKUT
dc.subject.otherCongenital megaurether
dc.subject.otherWhole-exome
dc.subject.otherTwins
dc.titleSingle nucleotide variants in a family of monozygotic twins discordant for the phenotype congenital megaureter: a genomic analysis
dc.typeArtigo de periódico
local.citation.epage19
local.citation.spage11
local.citation.volume10
local.description.resumoIntroduction: Congenital megaureter constitutes the second most frequent cause of hydronephrosis in children. There is still much debate on what extent environmental or genetic factors are involved in the pathogenesis of congenital megaureter. Objectives: This study aimed at investigating a pair of monozygotic twins discordant for the expression of bilateral congenital megaureter using the whole exome sequencing technique. Methods: Peripheral blood DNA was extracted and then sequenced using the whole exome technique from a pair of twins discordant for the presence of bilateral congenital refluxing unobstructed megaureter, his parents and a set of 11 non-related individuals with confirmed diagnosis of congenital megaureter. The DNA of the set of 11 non-related individuals was pooled in three groups. The monozygotic twins and their parents had DNA samples sequenced separately. Sanger validation was performed after data was filtered. Results: In the proband were identified 256 candidate genes, including TBX3, GATA6, DHH, LDB3, and HNF1, which are expressed in the urinary tract during the embryonic period. After Sanger validation, the SNVs found in the genes TBX3, GATA6, DHH and LDB3 were not confirmed in the proband. The SNV chr17:36104650 in the HNF1b gene was confirmed in the proband, his twin brother and the mother, however was not found in the pool of 11 non-related individuals with congenital megaureter. Conclusion: Due to the possible complex causative network of genetic variations and the challenges regarding the use of the whole exome sequencing technique we could not unequivocally associate the genetic variations identified in this study with the development of the congenital megaureter.
local.identifier.orcidhttps://orcid.org/0000-0001-8134-5825
local.publisher.countryBrasil
local.publisher.departmentMED - DEPARTAMENTO DE CIRURGIA
local.publisher.departmentMED - DEPARTAMENTO DE PEDIATRIA
local.publisher.initialsUFMG
local.url.externahttps://openurologyandnephrologyjournal.com/VOLUME/10/PAGE/11/

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