ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 36 citations in OpenAlex.
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- Hormonal Crosstalk in Melasma: Unraveling the Dual Roles of Estrogen and Progesterone in Melanogenesis.International journal of molecular sciences · 2025Review
- Reproductive function and behaviors: an update on the role of neural estrogen receptors alpha and beta.Frontiers in endocrinology · 2024Review
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- Is sex still binary?Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- Genetic control of typical and atypical sex development.Nature reviews. Urology · 2023Review
- Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis.Journal of medical genetics · 2023Article
- Disruption of estrogen receptor beta's DNA binding domain impairs its tumor suppressive effects in triple negative breast cancer.Frontiers in medicine · 2023Article
- Estradiol Signaling at the Heart of Folliculogenesis: Its Potential Deregulation in Human Ovarian Pathologies.International journal of molecular sciences · 2022Review
- Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Estrogen Signaling in Bone.Applied sciences (Basel, Switzerland) · 2021Article
- Molecular mechanisms underlying AMH elevation in hyperoestrogenic states in males.Scientific reports · 2020Article
- Long-Term Follow-Up and Treatment of a Female With Complete Estrogen Insensitivity.The Journal of clinical endocrinology and metabolism · 2020Article
- Estrogens in Human Male Gonadotropin Secretion and Testicular Physiology From Infancy to Late Puberty.Frontiers in endocrinology · 2020Review
- Male Hypogonadism and Disorders of Sex Development.Frontiers in endocrinology · 2020Review
- Estrogen Receptor β2 Oversees Germ Cell Maintenance and Gonadal Sex Differentiation in Medaka, Oryzias latipes.Stem cell reports · 2019Article
- Impact of estrogens in males and androgens in females.The Journal of clinical investigation · 2019Review
- GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’European journal of endocrinology · 2018Review
- Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes.Human genetics · 2018Article
Corrections and comments
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Authors and funding
21 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeDisorders or differences of sex development (DSDs) are rare congenital conditions characterized by atypical sex development. Despite advances in genomic technologies, the molecular cause remains unknown in 50% of cases.
methodsHomozygosity mapping and whole-exome sequencing revealed an ESR2 variant in an individual with syndromic 46,XY DSD. Additional cases with 46,XY DSD underwent whole-exome sequencing and targeted next-generation sequencing of ESR2. Functional characterization of the identified variants included luciferase assays and protein structure analysis. Gonadal ESR2 expression was assessed in human embryonic data sets and immunostaining of estrogen receptor-β (ER-β) was performed in an 8-week-old human male embryo.
resultsWe identified a homozygous ESR2 variant, c.541_543del p.(Asn181del), located in the highly conserved DNA-binding domain of ER-β, in an individual with syndromic 46,XY DSD. Two additional heterozygous missense variants, c.251G>T p.(Gly84Val) and c.1277T>G p.(Leu426Arg), located in the N-terminus and the ligand-binding domain of ER-β, were found in unrelated, nonsyndromic 46,XY DSD cases. Significantly increased transcriptional activation and an impact on protein conformation were shown for the p.(Asn181del) and p.(Leu426Arg) variants. Testicular ESR2 expression was previously documented and ER-β immunostaining was positive in the developing intestine and eyes.
conclusionOur study supports a role for ESR2 as a novel candidate gene for 46,XY DSD.
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