TY - JOUR
T1 - Gene dosage of DAX-1, determining in sexual differentiation
T2 - duplication of DAX-1 in two sisters with gonadal dysgenesis
AU - García-Acero, Mary
AU - Molina, Mónica
AU - Moreno, Olga
AU - Ramirez, Andrea
AU - Forero, Catalina
AU - Céspedes, Camila
AU - Prieto, Juan Carlos
AU - Pérez, Jaime
AU - Suárez-Obando, Fernando
AU - Rojas, Adriana
N1 - Publisher Copyright:
© The Author(s) 2019.
PY - 2019/6
Y1 - 2019/6
N2 - 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.
AB - 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.
KW - DAX-1
KW - DSD
KW - Disorders of sex development
KW - Gonadoblastoma
KW - Sex reversal syndrome
KW - Simple gonadal dysgenesis
UR - http://www.scopus.com/inward/record.url?scp=85063034293&partnerID=8YFLogxK
U2 - 10.1007/s11033-019-04758-y
DO - 10.1007/s11033-019-04758-y
M3 - Article
C2 - 30879272
AN - SCOPUS:85063034293
SN - 0301-4851
VL - 46
SP - 2971
EP - 2978
JO - Molecular Biology Reports
JF - Molecular Biology Reports
IS - 3
ER -