ArticleOrphanet journal of rare diseases2009
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.
Article in Orphanet journal of rare diseases, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 1 of them a synthesis that pooled it.
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Who cites it
52 citing papers in PubMed, 1 synthesis or guideline pooled it, 141 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
- Mosaic variants in the LIM homeobox 1 (LHX1) gene contribute to Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.Human genetics · 2026Article
- A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.Frontiers in endocrinology · 2026Article
- 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
- Multi- and Transgenerational Histological and Transcriptomic Outcomes of Developmental TCDD Exposure in Zebrafish (International journal of molecular sciences · 2025Article
- Decreased T helper 1 cell function underlies recurrent sinopulmonary infections in the 17q12 deletion syndrome.EBioMedicine · 2025Article
- Expanded phenotypic spectrum in MODY 5 patients with 17q12 deletion syndrome: experience from an Indian tertiary care hospital.Journal of pediatric endocrinology & metabolism : JPEM · 2024Article
- Genetic variation and molecular profiling of congenital malformations of the female genital tract based on whole-genome sequencing.World journal of pediatrics : WJP · 2024Article
- A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deletion SyndromeJournal of clinical research in pediatric endocrinology · 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
- A Cohort of 469 Mayer-Rokitansky-Küster-Hauser Syndrome Patients-Associated Malformations, Syndromes, and Heterogeneity of the Phenotype.Journal of clinical medicine · 2024Article
- 46,XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility outcomes.Frontiers in endocrinology · 2024Review
- Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.Frontiers in endocrinology · 2024Review
- Prenatal diagnosis and family analysis of 17q12 microdeletion syndrome with fetal renal abnormalities.Frontiers in genetics · 2024Article
- Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome.Human molecular genetics · 2023Article
- 17q12 Microdeletion Syndrome as a Rare Cause of Elevated Liver Enzymes: Case Report and Literature Review.Cureus · 2022Article
- Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature.Children (Basel, Switzerland) · 2022Review
- Evaluation of genetic variants using chromosomal microarray analysis for fetuses with polyhydramnios.BMC medical genomics · 2022Article
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Authors and funding
14 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMayer-Rokitansky-Kuster-Hauser syndrome (MRKH) consists of congenital aplasia of the uterus and the upper part of vagina due to anomalous development of Müllerian ducts, either isolated or associated with other congenital malformations, including renal, skeletal, hearing and heart defects. This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood. METHODS AND
resultswe report on two patients affected by MRKH syndrome in which array-CGH analysis disclosed an identical deletion spanning 1.5 Mb of genomic DNA at chromosome 17q12. One patient was affected by complete absence of uterus and vagina, with bilaterally normal ovaries, while the other displayed agenesis of the upper part of vagina, right unicornuate uterus, non cavitating rudimentary left horn and bilaterally multicystic kidneys. The deletion encompassed two candidate genes, TCF2 and LHX1. Mutational screening of these genes in a selected group of 20 MRKH females without 17q12 deletion was negative.
conclusionDeletion 17q12 is a rare albeit recurrent anomaly mediated by segmental duplications, previously reported in subjects with developmental kidney abnormalities and diabetes. The present two patients expand the clinical spectrum associated with this imbalance and suggest that this region is a candidate locus for a subset of MRKH syndrome individuals, with or without renal defects.
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