ArticlePloS one2011
Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers.
What it found
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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
60 citing papers in PubMed, 140 citations in OpenAlex.
- GWAS on early sexual maturation across freshwater and seawater environments in domesticated Lochy strain of Atlantic salmon.Genetics, selection, evolution : GSE · 2026Article
- <italic>WT1</italic> Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2026Article
- Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty.Orphanet journal of rare diseases · 2025Article
- Review
- 46,XY disorders of sex development and muscular dystrophy caused by Xp21 duplication: a case report and literature review.Translational pediatrics · 2024Article
- Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese.Biology of sex differences · 2024Article
- Expanding the phenotype of copy number variations involving NR0B1 (DAX1).European journal of human genetics : EJHG · 2024Article
- Review
- Cytogenomic Investigation of Syndromic Brazilian Patients with Differences of Sexual Development.Diagnostics (Basel, Switzerland) · 2023Article
- Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis.Journal of medical genetics · 2023Article
- Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development.Biomolecules · 2023Review
- Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal DysgenesisJournal of clinical research in pediatric endocrinology · 2023Article
- A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis withoutInternational journal of molecular sciences · 2022Article
- Review
- Genomic testing for copy number and single nucleotide variants in spermatogenic failure.Journal of assisted reproduction and genetics · 2022Article
- Transcriptional control of human gametogenesis.Human reproduction update · 2022Article
- Molecular and Cytogenetic Analysis of Romanian Patients with Differences in Sex Development.Diagnostics (Basel, Switzerland) · 2021Article
- The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD): I) Physiology, classification, approach, and methodologyII) Biochemical and genetic markers in 46,XX DSD.Advances in laboratory medicine · 2021Review
- Applying Single-Cell Analysis to Gonadogenesis and DSDs (Disorders/Differences of Sex Development).International journal of molecular sciences · 2020Review
- Duplications in 19p13.3 are associated with male infertility.Journal of assisted reproduction and genetics · 2019Article
Corrections and comments
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Authors and funding
24 authors at 8 institutions in 2 countries.
Funding
Abstract
Disorders of sex development (DSD), ranging in severity from mild genital abnormalities to complete sex reversal, represent a major concern for patients and their families. DSD are often due to disruption of the genetic programs that regulate gonad development. Although some genes have been identified in these developmental pathways, the causative mutations have not been identified in more than 50% 46,XY DSD cases. We used the Affymetrix Genome-Wide Human SNP Array 6.0 to analyse copy number variation in 23 individuals with unexplained 46,XY DSD due to gonadal dysgenesis (GD). Here we describe three discrete changes in copy number that are the likely cause of the GD. Firstly, we identified a large duplication on the X chromosome that included DAX1 (NR0B1). Secondly, we identified a rearrangement that appears to affect a novel gonad-specific regulatory region in a known testis gene, SOX9. Surprisingly this patient lacked any signs of campomelic dysplasia, suggesting that the deletion affected expression of SOX9 only in the gonad. Functional analysis of potential SRY binding sites within this deleted region identified five putative enhancers, suggesting that sequences additional to the known SRY-binding TES enhancer influence human testis-specific SOX9 expression. Thirdly, we identified a small deletion immediately downstream of GATA4, supporting a role for GATA4 in gonad development in humans. These CNV analyses give new insights into the pathways involved in human gonad development and dysfunction, and suggest that rearrangements of non-coding sequences disturbing gene regulation may account for significant proportion of DSD cases.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.