A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb

T Ohnesorg; J A van den Bergen; D Belluoccio; N Shankara-Narayana; A-M Kean; A Vasilaras; L Ewans; K L Ayers; A H Sinclair

doi:10.1111/cge.12976

A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb

Clin Genet. 2017 Sep;92(3):347-349. doi: 10.1111/cge.12976. Epub 2017 Mar 19.

Authors

T Ohnesorg¹, J A van den Bergen¹, D Belluoccio², N Shankara-Narayana^{3

4}, A-M Kean³, A Vasilaras³, L Ewans^{5

6}, K L Ayers^{1

7}, A H Sinclair^{1

7}

Affiliations

¹ Molecular Development, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.
² Department of Genomics, Agilent Technologies Inc., Mulgrave, Victoria, Australia.
³ Endocrinology & Metabolism Centre, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
⁴ ANZAC Research Institute, University of Sydney, Sydney, New South Wales, Australia.
⁵ Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
⁶ Central Clinical School, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
⁷ Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.

PMID: 28317102
DOI: 10.1111/cge.12976

Abstract

A custom CGH microarray that covers the SOX9 regulatory region. Log2 ratio scatterplot showing individual data points. Blue box highlights copy number gain with 3' breakpoint region magnified.

Keywords: SOX9; disorders of sex development; enhancer; gonads; testis; transcriptional regulation.

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Biomarkers
Gene Duplication*
Genetic Association Studies
Humans
Karyotype*
Male
Organ Specificity / genetics
Phenotype
Regulatory Sequences, Nucleic Acid*
SOX9 Transcription Factor / genetics*
Sexual Development / genetics*
Testicular Diseases / diagnosis*
Testicular Diseases / genetics*

Substances

Biomarkers
SOX9 Transcription Factor