ArticleHuman genetics2021
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome.
Article in Human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Molecular Basis of Müllerian Agenesis Causing Congenital Uterine Factor Infertility-A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Mosaic variants in the LIM homeobox 1 (LHX1) gene contribute to Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.Human genetics · 2026Article
- Genetic analyses using chromosomal microarray and exome sequencing in fetuses and women with Müllerian duct anomalies.Journal of assisted reproduction and genetics · 2025Article
- Mayer-Rokitansky-Küster-Hauser syndrome associated with 7q11.23 microduplication: A case report.Global medical genetics · 2025Article
- Four-point vaginal reconstruction versus conventional suturing techniques for the treatment of congenital vaginal atresia: a prospective randomized controlled trial.Frontiers in pediatrics · 2025Article
- Primary Amenorrhea and Premature Ovarian Insufficiency.Endocrinology and metabolism clinics of North America · 2024Review
- Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.Frontiers in endocrinology · 2024Review
- Assessing the morphology and ovarian reserve of the ovaries from Mayer-Rokitansky-Küster-Hauser syndrome patients.Science China. Life sciences · 2023Article
- Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.Human genetics · 2023Article
- Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome.Human molecular genetics · 2023Article
- Genome Sequencing and Transcriptome Profiling in Twins Discordant for Mayer-Rokitansky-Küster-Hauser Syndrome.Journal of clinical medicine · 2022Article
- Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature.Children (Basel, Switzerland) · 2022Review
- Variants in genes related to development of the urinary system are associated with Mayer-Rokitansky-Küster-Hauser syndrome.Human genomics · 2022Article
- An accurate prediction model of digenic interaction for estimating pathogenic gene pairs of human diseases.Computational and structural biotechnology journal · 2022Article
- Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight.International journal of molecular sciences · 2021Review
- Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network.American journal of human genetics · 2021Article
- The Genetic Landscape of Müllerian Duct Anomalies: A Comprehensive Review.Reproductive medicine and biologyReview
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 2 countries.
Funding
Abstract
purposeMayer-Rokitansky-Küster-Hauser (MRKH) syndrome consists of congenital absence of the uterus and vagina and is often associated with renal, skeletal, cardiac, and auditory defects. The genetic basis is largely unknown except for rare variants in several genes. Many candidate genes have been suggested by mouse models and human studies. The purpose of this study was to narrow down the number of candidate genes.
methodsWhole exome sequencing was performed on 111 unrelated individuals with MRKH; variant analysis focused on 72 genes suggested by mouse models, human studies of physiological candidates, or located near translocation breakpoints in t(3;16). Candidate variants (CV) predicted to be deleterious were confirmed by Sanger sequencing.
resultsSanger sequencing verified 54 heterozygous CV from genes identified through mouse (13 CV in 6 genes), human (22 CV in seven genes), and translocation breakpoint (19 CV in 11 genes) studies. Twelve patients had ≥ 2 CVs, including four patients with two variants in the same gene. One likely digenic combination of LAMC1 and MMP14 was identified.
conclusionWe narrowed 72 candidate genes to 10 genes that appear more likely implicated. These candidate genes will require further investigation to elucidate their role in the development of MRKH.
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