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- Title
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.
- Authors
Calvel, Pierre; Kusz-Zamelczyk, Kamila; Makrythanasis, Periklis; Janecki, Damian; Borel, Christelle; Conne, Béatrice; Vannier, anne; Béna, Frédérique; Gimelli, Stefania; Fichna, Piotr; antonarakis, Stylianos E.; Nef, Serge; Jaruzelska, Jadwiga
- Abstract
We report the case of a female patient suffering from a 46,XY disorder of sexual development (DSD) with complete gonadal dysgenesis and Wiedemann-Steiner Syndrome (WDSTS). The coexistence of these 2 conditions has not yet been reported. Using whole exome sequencing and comparative genome hybridization array, we identified a de novo MLL/KMT2A gene nonsense mutation which explains the WDSTS phenotype. In addition, we discovered novel genetic variants, which could explain the testicular dysgenesis observed in the patient, a maternally inherited 167-kb duplication of DAAM2 and MOCS1 genes and a de novo LRRC33/NRROS gene mutation. These genes, some of which are expressed during mouse gonadal development, could be considered as potentially new candidate genes for DSD. © 2015 S. Karger AG, Basel
- Publication
Sexual Development, 2016, Vol 9, Issue 5, p289
- ISSN
1661-5425
- Publication type
Article
- DOI
10.1159/000441512