Expanding the phenotype of copy number variations involving NR0B1 (DAX1).

Autor: Veyt N; Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium. nathalie.veyt@uzleuven.be., Van Buggenhout G; Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium., Devriendt K; Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium., Van Den Bogaert K; Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium., Brison N; Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium.
Jazyk: angličtina
Zdroj: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Apr; Vol. 32 (4), pp. 421-425. Date of Electronic Publication: 2024 Jan 10.
DOI: 10.1038/s41431-023-01522-6
Abstrakt: 46,XY gonadal dysgenesis (GD) is a disorder of sex development due to incomplete gonadal differentiation into testes, resulting in female to ambiguous external genitalia. Duplications at the Xp21.2 locus involving the NR0B1 (DAX1) gene have previously been associated with 46,XY GD. More recently, a complex structural variant not directly involving NR0B1 has been reported in 46,XY GD illustrating that the mechanism of how copy number variants (CNVs) at Xp21.2 may cause 46,XY gonadal dysgenesis is not yet fully understood. Here, we report on three families in which a duplication involving the NR0B1 gene was detected in the context of prenatal screening. This is the first report of duplications involving NR0B1 in three phenotypically normal males in two families. Fertility problems were present in one adult male carrier. The data reported here from an unbiased screening population broaden the phenotype associated with CNVs involving NR0B1, and this may aid clinicians in counseling and decision making in the prenatal context.
(© 2024. The Author(s), under exclusive licence to European Society of Human Genetics.)
Databáze: MEDLINE
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