ArticleJournal of medical genetics2006
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 103 papers, 1 of them a synthesis that pooled it.
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Who cites it
103 citing papers in PubMed, 1 synthesis or guideline pooled it, 239 citations in OpenAlex.
- Glutamatergic candidate genes in autism spectrum disorder: an overview.Journal of neural transmission (Vienna, Austria : 1996) · 2014Pooled it
- Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism.The Journal of clinical endocrinology and metabolism · 2013Trial
- Multi-omic analyses identify molecular targets of Chd7 that contribute to CHARGE syndrome model phenotypes.Disease models & mechanisms · 2026Article
- Systematic Ultrasound Evaluation of Olfactory Sulci in Fetuses with Congenital Heart Defects: A Clue for CHARGE Syndrome Diagnosis.Fetal diagnosis and therapy · 2025Article
- TThe Journal of allergy and clinical immunology · 2024Review
- Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT).Pediatric nephrology (Berlin, Germany) · 2024Review
- Pervasive cortical and white matter anomalies in a mouse model for CHARGE syndrome.Journal of anatomy · 2023Article
- 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
- Clinical spectrum of female genital malformations in prenatal diagnosis.Archives of gynecology and obstetrics · 2022Review
- [Genetic characteristics of microtia-associated syndromes in neonates].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2022Article
- International consensus statement on allergy and rhinology: Olfaction.International forum of allergy & rhinology · 2022Review
- Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings.Endocrine connections · 2022Article
- Reprogramming of the epigenome in neurodevelopmental disorders.Critical reviews in biochemistry and molecular biology · 2022Review
- The Differential Roles for Neurodevelopmental and Neuroendocrine Genes in Shaping GnRH Neuron Physiology and Deficiency.International journal of molecular sciences · 2021Review
- Deformity Reconstruction Surgery for Tibial Hemimelia.Children (Basel, Switzerland) · 2021Review
- The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective.Cellular and molecular life sciences : CMLS · 2021Review
- Inborn errors of thymic stromal cell development and function.Seminars in immunopathology · 2021Review
- Semaphorin Regulation by the Chromatin Remodeler CHD7: An Emerging Genetic Interaction Shaping Neural Cells and Neural Crest in Development and Cancer.Frontiers in cell and developmental biology · 2021Review
- Delayed and Precocious Puberty: Genetic Underpinnings and Treatments.Endocrinology and metabolism clinics of North America · 2020Review
43 more citing papers are in PubMed but not listed here.
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Authors and funding
25 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe acronym CHARGE refers to a non-random cluster of malformations including coloboma, heart malformation, choanal atresia, retardation of growth and/or development, genital anomalies, and ear anomalies. This set of multiple congenital anomalies is frequent, despite rare patients with normal intelligence, and prognosis remains poor. Recently, CHD7 gene mutations have been identified in CHARGE patients; however, the function of CHD7 during development remains unknown.
methodsWe studied a series of 10 antenatal cases in whom the diagnosis of CHARGE syndrome was suspected, considering that a careful pathological description would shed light on the CHD7 function during development. CHD7 sequence analysis and in situ hybridisation were employed.
resultsThe diagnosis of CHARGE syndrome was confirmed in all 10 fetuses by the identification of a CHD7 heterozygous truncating mutation. Interestingly, arhinencephaly and semi-circular canal agenesis were two constant features which are not included in formal diagnostic criteria so far. In situ hybridisation analysis of the CHD7 gene during early human development emphasised the role of CHD7 in the development of the central nervous system, internal ear, and neural crest of pharyngeal arches, and more generally showed a good correlation between specific CHD7 expression pattern and the developmental anomalies observed in CHARGE syndrome.
conclusionsThese results allowed us to further refine the phenotypic spectrum of developmental anomalies resulting from CHD7 dysfunction.
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