ArticleMolecular and cellular endocrinology2014
Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene.
Article in Molecular and cellular endocrinology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed, 23 citations in OpenAlex.
- Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.Human molecular genetics · 2018Trial
- Article
- Review
- A Risk of Gonadoblastoma in Familial Swyer Syndrome-A Case Report and Literature Review.Journal of clinical medicine · 2024Review
- Recent findings on the genetics of disorders of sex development.Current opinion in urology · 2017Review
- Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.European journal of human genetics : EJHG · 2015Article
Corrections and comments
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Authors and funding
10 authors at 7 institutions in 3 countries.
Funding
Abstract
background46,XY sex reversal is a rare disorder and familial cases are even more rare. The purpose of the present study was to determine the molecular basis for a family with three affected siblings who had 46,XY sex reversal.
methodsDNA was extracted from three females with 46,XY sex reversal, two normal sisters, and both unaffected parents. All protein coding exons of the SRY and NR5A1 genes were subjected to PCR-based DNA sequencing. In addition, array comparative genomic hybridization was performed on DNA from all seven family members. A deletion was confirmed using quantitative polymerase chain reaction. Expression of SOX9 gene was quantified using reverse transcriptase polymerase chain reaction.
resultsA 349kb heterozygous deletion located 353kb upstream of the SOX9 gene on the long arm of chromosome 17 was discovered in the father and three affected siblings, but not in the mother. The expression of SOX9 was significantly decreased in the affected siblings. Two of three affected sisters had gonadoblastomas.
conclusionThis is the first report of 46,XY sex reversal in three siblings who have a paternally inherited deletion upstream of SOX9 associated with reduced SOX9 mRNA expression.
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Registered trials
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