ArticleMolecular syndromology2013
More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated.
Article in Molecular syndromology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 53 citations in OpenAlex.
- Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome.Molecular and cellular pediatrics · 2026Article
- Graph retrieval augmented large language models for facial phenotype associated rare genetic disease.NPJ digital medicine · 2025Article
- CHD7 regulates definitive endodermal and mesodermal development from human embryonic stem cells.Stem cell research & therapy · 2025Article
- Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.Journal of human genetics · 2025Article
- Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes.Biomolecules · 2024Article
- Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management.Current allergy and asthma reports · 2023Review
- Surgical insights and management in patients with the 22q11.2 deletion syndrome.Pediatric surgery international · 2022Article
- Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.Human molecular genetics · 2020Article
- Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- Guidelines in CHARGE syndrome and the missing link: Cranial imaging.American journal of medical genetics. Part C, Seminars in medical genetics · 2017Review
- Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula.European journal of human genetics : EJHG · 2016Article
- Maturation and Dysgenesis of the Human Olfactory Bulb.Brain pathology (Zurich, Switzerland) · 2016Article
- Involvement of Fibroblast Growth Factors and Their Receptors in Epididymo-Testicular Descent and Maldescent.Molecular syndromology · 2016Review
- A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome.Human genome variation · 2016Article
- Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports.Case reports in pediatrics · 2016Article
- CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.Cardiology in the young · 2016Review
- CHARGE syndrome: a review of the immunological aspects.European journal of human genetics : EJHG · 2015Review
- Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome.Trends in genetics : TIG · 2015Review
- A novel CHD7 mutation in a Chinese patient with CHARGE syndrome.Meta gene · 2014Article
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Authors and funding
11 authors at 3 institutions in 3 countries.
Funding
Abstract
CHARGE (coloboma, heart defects, atresia of choanae, retardation of growth and development, genital hypoplasia, and ear abnormalities) and 22q11.2 deletion syndromes are variable, congenital malformation syndromes that show considerable phenotypic overlap. We further explored this clinical overlap and proposed recommendations for the genetic diagnosis of both syndromes. We described 2 patients clinically diagnosed with CHARGE syndrome, who were found to carry a 22q11.2 deletion, and searched the literature for more cases. In addition, we screened our cohort of CHD7 mutation carriers (n = 802) for typical 22q11.2 deletion features and studied CHD7 in 20 patients with phenotypically 22q11.2 deletion syndrome but without haploinsufficiency of TBX1. In total, we identified 5 patients with a clinical diagnosis of CHARGE syndrome and a proven 22q11.2 deletion. Typical 22q11.2 deletion features were found in 30 patients (30/802, 3.7%) of our CHD7 mutation-positive cohort. We found truncating CHD7 mutations in 5/20 patients with phenotypically 22q11.2 deletion syndrome. Differentiating between CHARGE and 22q11.2 deletion syndromes can be challenging. CHD7 and TBX1 probably share a molecular pathway or have common target genes in affected organs. We strongly recommend performing CHD7 analysis in patients with a 22q11.2 deletion phenotype without TBX1 haploinsufficiency and conversely, performing a genome-wide array in CHARGE syndrome patients without a CHD7 mutation.
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