Gene dosage of DAX-1, determining in sexual differentiation: duplication of DAX-1 in two sisters with gonadal dysgenesis
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2019-03-16Autor(es)
Garcia-Acero, MaryMolina Camargo, Monica Lorena
Moreno Niño, Olga María
Ramirez Rodriguez, Andrea
Forero Ronderos, Catalina
Cespedes Salazar, Camila
Prieto Rivera, Juan Carlos
Perez Niño, Jaime
Suárez-Obando, F.
Rojas, Adriana
Autor(es) Corporativo(s)
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Pediatría. Grupo de Investigación de la Mujer y de la Infancia (GIMI)
Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Pediatría
Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Cirugía y Especialidades. Urología
Tipo
Artículo de revista
ISSN
0301-4851 / 1573-4978 (Electrónico)
Páginas
2971 - 2978
Tipo de Item
Artículo original
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Abstract
Two sisters phenotypically normal females, presenting with tumor abdominal mass with histopathological findings of teratoma and gonadoblastoma associated to 46,XY male-to-female sex reversal syndrome, secondary to a duplication in DAX-1, possibly inherited of maternal gonadal mosaicism. Copy number variation and functional effects of the duplication were done by MLPA multiplex ligation-dependent probe amplification and real time PCR. DAX-1, also known as dosage sensitive sex reversal gene (DSS), is considered the most likely candidate gene involved in XY gonadal dysgenesis when overexpressed. The excess of DAX-1 gene disturbs testicular development by down regulation of SF-1, WT1, and SOX9. This is the first report of 46,XY sex reversal in two siblings who have a maternally inherited duplication of DAX-1 associated with reduced levels of expression of downstream genes as SOX9-SF1.
Keywords
Sex reversal syndromeSimple gonadal dysgenesis
Gonadoblastoma
Disorders of sex development
DSD
DAX-1
Cobertura Espacial
ColombiaComunidade
Pacientes con Disgenesia gonadalLink para o recurso
https://link.springer.com/article/10.1007/s11033-019-04758-yFonte
Molecular Biology Reports; Volumen 46 Número 3 (2019)
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