Duplication of SOX9 associated with 46,XX ovotesticular disorder of sex development
The purpose of the present study was to investigate whether ten unrelated SRY-negative individuals with this sex differentiation disorder presented a double dose of SOX9 as the cause of their disease. Ten unrelated SRY-negative 46,XX ovotesticular disorder of sexual development (DSD) subjects were m...
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Published in | Reproductive biomedicine online Vol. 37; no. 1; pp. 107 - 112 |
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Main Authors | , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Netherlands
Elsevier Ltd
01.07.2018
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Subjects | |
Online Access | Get full text |
ISSN | 1472-6483 1472-6491 1472-6491 |
DOI | 10.1016/j.rbmo.2018.03.017 |
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Summary: | The purpose of the present study was to investigate whether ten unrelated SRY-negative individuals with this sex differentiation disorder presented a double dose of SOX9 as the cause of their disease.
Ten unrelated SRY-negative 46,XX ovotesticular disorder of sexual development (DSD) subjects were molecularly studied. Multiplex-ligation dependent probe amplification (MLPA) and quantitative real-time PCR analysis (qRT-PCR) for SOX9 were performed.
The MLPA analysis demonstrated that one patient presented a heterozygous duplication of the entire SOX9 coding region (above 1.3 value of peak ratio), as well as at least a ~ 483 kb upstream duplication. Moreover, no duplication of other SOX9 probes was observed corresponding to the region between −1007 and −1500 kb upstream. A qRT-PCR analysis showed a duplication of at least −581 kb upstream and ~1.63 kb of the coding region that encompasses exon 3. The limits of the duplication were mapped approximately from ~71539762 to 72122741 of Chr17. No molecular abnormalities were found in the remaining nine patients.
This study is thought to be the first report regarding a duplication of SOX9 that is associated with the presence of 46,XX ovotesticular DSD, encompassing at least −581 kb upstream, and the almost entire coding region of the gene. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 1472-6483 1472-6491 1472-6491 |
DOI: | 10.1016/j.rbmo.2018.03.017 |