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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
Sloan Bena, Frédérique
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Published in Sexual Development. 2015, vol. 9, no. 5, p. 289-295
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.
Identifiers
PMID: 26544196
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Structures
Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement
Research group Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
Citation
(ISO format) 		CALVEL, Pierre et al. A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. In: Sexual Development, 2015, vol. 9, n° 5, p. 289-295. doi: 10.1159/000441512 https://archive-ouverte.unige.ch/unige:78097

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Deposited on : 2015-12-02

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