ArticleJournal of human genetics2016
Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.
Article in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis.Journal of neurodevelopmental disorders · 2022Pooled it
- Phenotyping trisomies 13 and 18 and CHARGE syndrome in fetal MRI-a proposed phenome-based, morphological disease severity score, and network medicine analysis.European radiology · 2026Article
- Diagnostic Yield of Exome Sequencing in Patients With Congenital Heart Disease From Southern Africa.Circulation. Genomic and precision medicine · 2026Article
- Dental Management of a 9-Year-Old Child With Suspected CHARGE Syndrome: A Case Report and Brief Literature Review.Clinical case reports · 2026Article
- Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.Journal of human genetics · 2025Article
- Pervasive cortical and white matter anomalies in a mouse model for CHARGE syndrome.Journal of anatomy · 2023Article
- Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings.Endocrine connections · 2022Article
- Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.Frontiers in genetics · 2020Article
- Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome.AJNR. American journal of neuroradiology · 2019Observational
- The Spatiotemporal Pattern and Intensity of p53 Activation Dictates Phenotypic Diversity in p53-Driven Developmental Syndromes.Developmental cell · 2019Article
- Quantitative brain morphological analysis in CHARGE syndrome.NeuroImage. Clinical · 2019Article
- ALS and CHARGE syndrome: a clinical and genetic study.Acta neurologica Belgica · 2018Article
- Guidelines in CHARGE syndrome and the missing link: Cranial imaging.American journal of medical genetics. Part C, Seminars in medical genetics · 2017Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
CHARGE syndrome (OMIM 214800) is a rare autosomal-dominant congenital malformation syndrome that results from haploinsufficiency of the chromodomain helicase DNA-binding protein 7 (CHD7). We performed a phenotypic characterization and genetic analysis of CHD7 in 18 Korean patients with CHARGE syndrome. Eighteen unrelated Korean patients (10 females and 8 males; age range 0.0-19.6 years) with CHARGE syndrome were enrolled. Clinical data were collected by retrospective review of medical records. A serial analysis via sequencing and multiple ligation-dependent probe amplification of CHD7 was performed to determine the molecular genetic spectrum of the patients. The prevalence of cardinal symptoms was as follows: coloboma (13/18, 72.2%), heart defects (13/18, 72.2%), choanal atresia/stenosis (4/18, 22.2%), retarded growth (10/18, 55.6%), genital anomalies (15/18, 83.3%) and ear abnormalities (18/18, 100%). Five patients had cerebellar vermis hypoplasia (5/17, 29.4%) with no clinical symptoms or signs of cerebellar dysfunction. Furthermore, we identified genetic alterations in all 18 patients, including 10 novel mutations. Considering its frequency among patients with CHD7 mutations, cerebellar vermis hypoplasia may be a clinical diagnostic clue of CHARGE syndrome, although it is not included in the diagnostic criteria. And, the identification of CHD7 mutations may help the confirmative diagnosis.
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