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

Mary García-acero; Mónica Molina; Olga Moreno; Andrea Ramirez; Catalina Forero; Camila Céspedes; Juan Carlos Prieto; Jaime Pérez; Fernando Suárez-obando; Adriana Rojas

doi:10.1007/s11033-019-04758-y

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

Mary García-acero
, Mónica Molina
, Olga Moreno
, Andrea Ramirez
, Catalina Forero
, Camila Céspedes
, Juan Carlos Prieto
, Jaime Pérez
, Fernando Suárez-obando
, Adriana Rojas

Universidad Javeriana
Hospital Universitario San Ignacio

Research output: Contribution to journal › Article › peer-review

24 Scopus citations

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.

Original language	English
Pages (from-to)	2971-2978
Number of pages	8
Journal	Molecular Biology Reports
Volume	46
Issue number	3
DOIs	https://doi.org/10.1007/s11033-019-04758-y
State	Published - Jun 2019

Keywords

DAX-1
DSD
Disorders of sex development
Gonadoblastoma
Sex reversal syndrome
Simple gonadal dysgenesis

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10.1007/s11033-019-04758-y

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

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 = "DAX-1, DSD, Disorders of sex development, Gonadoblastoma, Sex reversal syndrome, Simple gonadal dysgenesis",

author = "Mary Garc{\'i}a-acero and M{\'o}nica Molina and Olga Moreno and Andrea Ramirez and Catalina Forero and Camila C{\'e}spedes and Prieto, \{Juan Carlos\} and Jaime P{\'e}rez and Fernando Su{\'a}rez-obando and Adriana Rojas",

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year = "2019",

month = jun,

doi = "10.1007/s11033-019-04758-y",

language = "English",

volume = "46",

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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

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DO - 10.1007/s11033-019-04758-y

M3 - Article

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AN - SCOPUS:85063034293

SN - 0301-4851

VL - 46

SP - 2971

EP - 2978

JO - Molecular Biology Reports

JF - Molecular Biology Reports

IS - 3

ER -

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

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Keywords

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