ArticleAmerican journal of medical genetics. Part A2009
NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness.
Article in American journal of medical genetics. Part A, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome.Biological psychiatry · 2024Pooled it
- Unravelling the conundrum of nucleolar NR2F1 localization using antibody-based approaches in vitro and in vivo.Communications biology · 2025Article
- Mapping of chromatin architecture and enhancer-promoter interactions in the cochlea.Frontiers in molecular biosciences · 2025Article
- Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment.Human molecular genetics · 2023Article
- Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.Nature genetics · 2023Article
- The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing.International journal of neonatal screening · 2022Article
- Review
- Atrial and Sinoatrial Node Development in the Zebrafish Heart.Journal of cardiovascular development and disease · 2021Review
- PathogenicBrain communications · 2021Article
- Characterization of rare spindle and root cell transcriptional profiles in the stria vascularis of the adult mouse cochlea.Scientific reports · 2020Article
- NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients.The EMBO journal · 2020Article
- Sensory cortex wiring requires preselection of short- and long-range projection neurons through an Egr-Foxg1-COUP-TFI network.Nature communications · 2019Article
- Nr2f-dependent allocation of ventricular cardiomyocyte and pharyngeal muscle progenitors.PLoS genetics · 2019Article
- The novel lncRNAeLife · 2019Article
- A spontaneous mouse deletion in Mctp1 uncovers a long-range cis-regulatory region crucial for NR2F1 function during inner ear development.Developmental biology · 2018Article
- Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation.Journal of human genetics · 2018Article
- Essential Role of Nr2f Nuclear Receptors in Patterning the Vertebrate Upper Jaw.Developmental cell · 2018Article
- NovelCold Spring Harbor molecular case studies · 2017Review
- The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- COUP-TFs and eye development.Biochimica et biophysica acta · 2015Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
In an effort to discover genes important for human development, we have ascertained patients with congenital anomalies and cytogenetically balanced chromosomal rearrangements. Herein, we report a 4-year-old girl with profound deafness, a history of feeding difficulties, dysmorphism, strabismus, developmental delay, and an apparently balanced de novo paracentric chromosome 5 inversion, inv(5)(q15q33.2). Molecular cytogenetic analysis of the inversion revealed the presence of microdeletions of approximately 400-500 kb at or near both breakpoints. The 5q15 microdeletion completely removes the nuclear receptor NR2F1 (COUP-TFI) from the inverted chromosome 5. We propose haploinsufficiency of NR2F1 to be the cause of the patient's deafness and many of the other associated anomalies based on striking similarity with the Nr2f1 null mouse. Additionally, this study further highlights the need for high resolution analysis of clinical samples with chromosomal rearrangements as associated deletions may be primarily responsible for the clinical features of these patients.
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Registered trials
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.