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A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication.
Francese-Santos, Ana Paula; Meinel, Jakob A; Piveta, Cristiane S C; Andrade, Juliana G R; Barros, Beatriz A; Fabbri-Scallet, Helena; Gil-da-Silva-Lopes, Vera Lúcia; Guerra-Junior, Gil; Künstner, Axel; Busch, Hauke; Hiort, Olaf; de Mello, Maricilda P; Werner, Ralf; Maciel-Guerra, Andréa T.
Afiliación
  • Francese-Santos AP; Department of Translational Medicine, State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil.
  • Meinel JA; Molecular Biology and Genetic Engineering Center, State University of Campinas (UNICAMP), Campinas 13083-875, SP, Brazil.
  • Piveta CSC; Department of Pediatrics and Adolescent Medicine, Division of Paediatric Endocrinology and Diabetes, University of Lübeck, 23562 Lübeck, Germany.
  • Andrade JGR; Molecular Biology and Genetic Engineering Center, State University of Campinas (UNICAMP), Campinas 13083-875, SP, Brazil.
  • Barros BA; Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil.
  • Fabbri-Scallet H; Department of Pediatrics, State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil.
  • Gil-da-Silva-Lopes VL; Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil.
  • Guerra-Junior G; Department of Pediatrics, State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil.
  • Künstner A; Molecular Biology and Genetic Engineering Center, State University of Campinas (UNICAMP), Campinas 13083-875, SP, Brazil.
  • Busch H; Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil.
  • Hiort O; Department of Translational Medicine, State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil.
  • de Mello MP; Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil.
  • Werner R; Department of Pediatrics, State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil.
  • Maciel-Guerra AT; Group of Medical Systems Biology, Lübeck Institute of Experimental Dermatology, University of Lübeck, 23562 Lübeck, Germany.
Int J Mol Sci ; 24(1)2022 Dec 28.
Article en En | MEDLINE | ID: mdl-36613932
ABSTRACT
A region of 160 kb at Xp21.2 has been defined as dosage-sensitive sex reversal (DSS) and includes the NR0B1 gene, considered to be the candidate gene involved in XY gonadal dysgenesis if overexpressed. We describe a girl with 46,XY partial gonadal dysgenesis carrying a 297 kb duplication at Xp21.2 upstream of NR0B1 initially detected by chromosomal microarray analysis. Fine mapping of the breakpoints by whole-genome sequencing showed a tandem duplication of TASL (CXorf21), GK and partially TAB3, upstream of NR0B1. This is the first description of an Xp21.2 duplication upstream of NR0B1 associated with 46,XY partial gonadal dysgenesis.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Disgenesia Gonadal 46 XY Tipo de estudio: Diagnostic_studies Límite: Female / Humans Idioma: En Revista: Int J Mol Sci Año: 2022 Tipo del documento: Article País de afiliación: Brasil
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Disgenesia Gonadal 46 XY Tipo de estudio: Diagnostic_studies Límite: Female / Humans Idioma: En Revista: Int J Mol Sci Año: 2022 Tipo del documento: Article País de afiliación: Brasil