A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

White, Stefan, Hewitt, Jacqueline, Turbitt, Erin, van der Zwan, Yvonne, Hersmus, Remko, Drop, Stenvert, Koopman, Peter, Harley, Vincent, Cools, Martine, Looijenga, Leendert and Sinclair. Andrew (2012) A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development. European Journal of Human Genetics, 20 3: 348-351.


Author White, Stefan
Hewitt, Jacqueline
Turbitt, Erin
van der Zwan, Yvonne
Hersmus, Remko
Drop, Stenvert
Koopman, Peter
Harley, Vincent
Cools, Martine
Looijenga, Leendert
Sinclair. Andrew
Title A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development
Formatted title A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development
Journal name European Journal of Human Genetics   Check publisher's open access policy
ISSN 1018-4813
1476-5438
Publication date 2012-03
Year available 2011
Sub-type Article (original research)
DOI 10.1038/ejhg.2011.204
Volume 20
Issue 3
Start page 348
End page 351
Total pages 4
Place of publication London, Hamps, U.K.
Publisher Nature Publishing Group
Collection year 2013
Language eng
Formatted abstract Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling difficult and potentially hindering optimal treatment. Here, we describe the analysis of a 46,XY DSD patient that presented at birth with ambiguous genitalia. Histological analysis of the surgically removed gonads showed bilateral undifferentiated gonadal tissue and immature testis, both containing malignant germ cells. We screened genomic DNA from this patient for deletions and duplications using an Illumina whole-genome SNP microarray. This analysis revealed a heterozygous deletion within the WWOX gene on chromosome 16, removing exons 6–8. Analysis of parental DNA showed that the deletion was inherited from the mother. cDNA analysis confirmed that the deletion maintained the reading frame, with exon 5 being spliced directly onto exon 9. This deletion is the first description of a germline rearrangement affecting the coding sequence of WWOX in humans. Previously described Wwox knockout mouse models showed gonadal abnormalities, supporting a role for WWOX in human gonad development.
Keyword Disorders of sex development
Copy number
WWOX
Gonad
Microarrays
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Published online 9 November 2011

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2013 Collection
Institute for Molecular Bioscience - Publications
 
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Created: Wed, 18 Jan 2012, 10:18:15 EST by Susan Allen on behalf of Institute for Molecular Bioscience