期刊
SEXUAL DEVELOPMENT
卷 9, 期 5, 页码 289-295出版社
KARGER
DOI: 10.1159/000441512
关键词
Disorders of gonadal development; Sex determination; Wiedemann-Steiner syndrome
资金
- Gerbert Ruf Stiftun
- Departement de l'Instruction Publique of the State of Geneva
- Foundation Gertrude Von Meissner
- Swiss National Science Foundation [SCOPES IZ73Z0_152347/1]
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. (C) 2015 S. Karger AG, Basel
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