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Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Cell and Molecular Biology, Computational and Systems Biology. Uppsala University, Science for Life Laboratory, SciLifeLab.
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2013 (English)In: European Journal of Medical Genetics, ISSN 1769-7212, E-ISSN 1878-0849, Vol. 56, no 12, 661-668 p.Article in journal (Refereed) Published
Abstract [en]

Half of all patients with a disorder of sex development (DSD) do not receive a specific molecular diagnosis. Comparative genomic hybridization (CGH) can detect copy number changes causing gene haploinsufficiency or over-expression that can lead to impaired gonadal development and gonadal DSD. The purpose of this study was to identify novel candidate genes for 46,XY gonadal dysgenesis (GD) using a customized 1 M array-CGH platform with whole-genome coverage and probe enrichment targeting 78 genes involved in sex development. Fourteen patients with 46,XY gonadal DSD were enrolled in the study. Nine individuals were analyzed by array CGH. All patients were included in a follow up sequencing study of candidate genes. Three novel candidate regions for 46,XY GD were identified in two patients. An interstitial duplication of the SUPT3H gene and a deletion of C2ORF80 were detected in a pair of affected siblings. Sequence analysis of these genes in all patients revealed no additional mutations. A large duplication highlighting PIP5K1B, PRKACG and FAM189A2 as candidates for 46, XY GD, were also detected. All five genes are expressed in testicular tissues, and one is shown to cause gonadal DSD in mice. However detailed functional information is lacking for these genes.

Place, publisher, year, edition, pages
2013. Vol. 56, no 12, 661-668 p.
Keyword [en]
Array-CGH, C2ORF80, Disorders of sex development, Gonadal dysgenesis, SUPT3H, PIP5K1B
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-213906DOI: 10.1016/j.ejmg.2013.09.003ISI: 000327718500004OAI: diva2:683731
Available from: 2014-01-06 Created: 2014-01-05 Last updated: 2014-01-06Bibliographically approved

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Persson, Bengt
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