ArticleEuropean journal of human genetics : EJHG2010
Study of smell and reproductive organs in a mouse model for CHARGE syndrome.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 52 citations in OpenAlex.
- Multi-omic analyses identify molecular targets of Chd7 that contribute to CHARGE syndrome model phenotypes.Disease models & mechanisms · 2026Article
- Morphological and sensorimotor phenotypes in a zebrafish CHARGE syndrome model are domain-dependent.Genes, brain, and behavior · 2023Article
- Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report.BMC endocrine disorders · 2023Article
- Characterization of Two MouseInternational journal of molecular sciences · 2022Article
- CHARGE syndrome-associated proteins FAM172A and CHD7 influence male sex determination and differentiation through transcriptional and alternative splicing mechanisms.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2022Article
- The Differential Roles for Neurodevelopmental and Neuroendocrine Genes in Shaping GnRH Neuron Physiology and Deficiency.International journal of molecular sciences · 2021Review
- Folic Acid Fortification Prevents Morphological and Behavioral Consequences of X-Ray Exposure During Neurulation.Frontiers in behavioral neuroscience · 2020Article
- Transcriptional and Epigenetic Control of Mammalian Olfactory Epithelium Development.Molecular neurobiology · 2018Review
- Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Reproductive endocrine phenotypes relating to CHD7 mutations in humans.American journal of medical genetics. Part C, Seminars in medical genetics · 2017Review
- New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.American journal of medical genetics. Part C, Seminars in medical genetics · 2017Review
- The terminal nerve plays a prominent role in GnRH-1 neuronal migration independent from proper olfactory and vomeronasal connections to the olfactory bulbs.Biology open · 2017Article
- The Chromodomain Helicase DNA-Binding Chromatin Remodelers: Family Traits that Protect from and Promote Cancer.Cold Spring Harbor perspectives in medicine · 2017Review
- The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression.The Journal of clinical investigation · 2017Article
- Versatile Roles of the Chromatin Remodeler CHD7 during Brain Development and Disease.Frontiers in molecular neuroscience · 2017Review
- CHD7 promotes proliferation of neural stem cells mediated by MIF.Molecular brain · 2016Article
- Maturation and Dysgenesis of the Human Olfactory Bulb.Brain pathology (Zurich, Switzerland) · 2016Article
- Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.The Journal of clinical investigation · 2015Article
- Chromodomain helicase DNA-binding proteins in stem cells and human developmental diseases.Stem cells and development · 2015Review
- Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
CHARGE syndrome is a multiple congenital anomaly syndrome characterised by Coloboma, Heart defects, Atresia of choanae, Retardation of growth and/or development, Genital hypoplasia, and Ear anomalies often associated with deafness. It is caused by heterozygous mutations in the CHD7 gene and shows a highly variable phenotype. Anosmia and hypogonadotropic hypogonadism occur in the majority of the CHARGE patients, but the underlying pathogenesis is unknown. Therefore, we studied the ability to smell and aspects of the reproductive system (reproductive performance, gonadotropin-releasing hormone (GnRH) neurons and anatomy of testes and uteri) in a mouse model for CHARGE syndrome, the whirligig mouse (Chd7(Whi/+)). We showed that Chromodomain Helicase DNA-binding protein 7 (Chd7) is expressed in brain areas involved in olfaction and reproduction during embryonic development. We observed poorer performance in the smell test in adult Chd7(Whi/+) mice, secondary either to olfactory dysfunction or to balance disturbances. Olfactory bulb and reproductive organ abnormalities were observed in a proportion of Chd7(Whi/+) mice. Hypothalamic GnRH neurons were slightly reduced in Chd7(Whi/+) females and reproductive performance was slightly less in Chd7(Whi/+) mice. This study shows that the penetrance of anosmia and hypogonadotropic hypogonadism is lower in Chd7(Whi/+) mice than in CHARGE patients. Interestingly, many phenotypic features of the Chd7 mutation showed incomplete penetrance in our model mice, despite the use of inbred, genetically identical mice. This supports the theory that the extreme variability of the CHARGE phenotype in both humans and mice might be attributed to variations in the fetal microenvironment or to purely stochastic events.
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