A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.
Sex Dev
; 9(5): 289-95, 2015.
Article
in En
| MEDLINE
| ID: mdl-26544196
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Histone-Lysine N-Methyltransferase
/
Myeloid-Lymphoid Leukemia Protein
/
Disorder of Sex Development, 46,XY
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Gonadal Dysgenesis, 46,XY
Type of study:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Female
/
Humans
/
Male
/
Newborn
Language:
En
Journal:
Sex Dev
Journal subject:
CIENCIAS DO COMPORTAMENTO
Year:
2015
Document type:
Article
Affiliation country: