Gene dosage of DAX-1, determining in sexual differentiation: duplication of DAX-1 in two sisters with gonadal dysgenesis

被引:0
作者
Mary García-Acero
Mónica Molina
Olga Moreno
Andrea Ramirez
Catalina Forero
Camila Céspedes
Juan Carlos Prieto
Jaime Pérez
Fernando Suárez-Obando
Adriana Rojas
机构
[1] Pontificia Universidad Javeriana,Instituto de Genética Humana, Facultad de Medicina
[2] Hospital Universitario San Ignacio,Pediatric Endocrinology
[3] Hospital Universitario San Ignacio,Department of Urology
[4] Hospital Universitario San Ignacio,Clinical Genetics Service
来源
Molecular Biology Reports | 2019年 / 46卷
关键词
Sex reversal syndrome; Simple gonadal dysgenesis; Gonadoblastoma; Disorders of sex development; DSD; DAX-1;
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摘要
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.
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页码:2971 / 2978
页数:7
相关论文
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