ArticleHuman molecular genetics2023
Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome.
Article in Human molecular genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Molecular Basis of Müllerian Agenesis Causing Congenital Uterine Factor Infertility-A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance.Clinical genetics · 2026Review
- Wnt5a Regulates Embryonic Müllerian Duct Development Through the Non-Canonical Wnt PCP Pathway.Cells · 2026Article
- 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.Frontiers in medicine · 2026Article
- Mayer-Rokitansky-Kuster-Hauser Syndrome: From Radiological Diagnosis to Further Challenges-Review and Update.Diagnostics (Basel, Switzerland) · 2026Review
- Mayer-Rokitansky-Küster-Hauser syndrome type II. Case report.JBRA assisted reproduction · 2025Article
- Genetic analyses using chromosomal microarray and exome sequencing in fetuses and women with Müllerian duct anomalies.Journal of assisted reproduction and genetics · 2025Article
- MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.Genes · 2025Review
- Coding Variants of the Genitourinary Development GeneJCO precision oncology · 2025Article
- Müllerian anomalies and endometriosis: associations and phenotypic variations.Reproductive biology and endocrinology : RB&E · 2024Review
- Identification and functional characteristics of CHD1L gene variants implicated in human Müllerian duct anomalies.Biological research · 2024Article
- A Case of Chromosome 17q12 Deletion Syndrome with Type 2 Mayer-Rokitansky-Küster-Hauser Syndrome and Maturity-Onset Diabetes of the Young Type 5.Children (Basel, Switzerland) · 2024Article
- The genetic etiologies of bilateral renal agenesis.Prenatal diagnosis · 2024Review
- Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.Frontiers in endocrinology · 2024Review
- Review
- The Genetic Landscape of Müllerian Duct Anomalies: A Comprehensive Review.Reproductive medicine and biologyReview
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Authors and funding
15 authors at 7 institutions in 3 countries.
Funding
Abstract
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital condition characterized by aplasia or hypoplasia of the uterus and vagina in women with a 46,XX karyotype. This condition can occur as type I when isolated or as type II when associated with extragenital anomalies including kidney and skeletal abnormalities. The genetic basis of MRKH syndrome remains unexplained and several candidate genes have been proposed to play a role in its etiology, including HNF1B, LHX1 and WNT4. Here, we conducted a microarray analysis of 13 women affected by MRKH syndrome, resulting in the identification of chromosomal changes, including the deletion at 17q12, which contains both HNF1B and LHX1. We focused on HNF1B for further investigation due to its known association with, but unknown etiological role in, MRKH syndrome. We ablated Hnf1b specifically in the epithelium of the Müllerian ducts in mice and found that this caused hypoplastic development of the uterus, as well as kidney anomalies, closely mirroring the MRKH type II phenotype. Using single-cell RNA sequencing of uterine tissue in the Hnf1b-ablated embryos, we analyzed the molecules and pathways downstream of Hnf1b, revealing a dysregulation of processes associated with cell proliferation, migration and differentiation. Thus, we establish that loss of Hnf1b function leads to an MRKH phenotype and generate the first mouse model of MRKH syndrome type II. Our results support the investigation of HNF1B in clinical genetic settings of MRKH syndrome and shed new light on the molecular mechanisms underlying this poorly understood condition in women's reproductive health.
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