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Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development.
Qian, Zhiyu; Grand, Katheryn; Freedman, Andrew; Nieto, Maria C; Behlmann, Andrea; Schweiger, Bahareh M; Sanchez-Lara, Pedro A.
Afiliación
  • Qian Z; Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
  • Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.
  • Freedman A; Department of Surgery, Cedars-Sinai Medical Center, Los Angeles, California, USA.
  • Nieto MC; Department of Biological Sciences, California State University, Hayward, California, USA.
  • Behlmann A; PerkinElmer Genomics, Duluth, Georgia, USA.
  • Schweiger BM; Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
  • Sanchez-Lara PA; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Am J Med Genet A ; 185(9): 2782-2788, 2021 09.
Article en En | MEDLINE | ID: mdl-34050715
Ovotesticular differences of sexual development (OT-DSD) are rare genetic variances defined by the coexistence of both testicular and ovarian tissues. Various molecular etiologies including SRY translocation or SOX9 pathogenic variants with different modes of inheritance have been associated with 46,XX OT-DSD. Here we describe a child diagnosed with SRY-negative 46,XX OT-DSD after completing a series of complex clinical genetic analyses, including chromosomal microarray, DSD gene panel (sequencing and deletion/duplication analysis), whole exome sequencing, and whole genome sequencing. Of these, only whole genome sequencing reported a pathogenic duplication in a non-coding region that contains the RevSex regulatory element, which modifies SOX9 expression and is associated with 46,XX OT-DSD and complete sex reversal. This is the first clinical RevSex duplication detected by clinical whole genome sequencing. We highlight the utility of whole genome sequencing in shortening the diagnostic odyssey and the importance of optimal counseling through a team-based multi-specialty approach for patients with DSDs.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Duplicación de Gen / Trastornos Ovotesticulares del Desarrollo Sexual / Factor de Transcripción SOX9 / Trastornos del Desarrollo Sexual 46, XX / Secuenciación Completa del Genoma Tipo de estudio: Prognostic_studies Límite: Humans / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Duplicación de Gen / Trastornos Ovotesticulares del Desarrollo Sexual / Factor de Transcripción SOX9 / Trastornos del Desarrollo Sexual 46, XX / Secuenciación Completa del Genoma Tipo de estudio: Prognostic_studies Límite: Humans / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos