ArticleGenetic testing and molecular biomarkers2010
Mutations in the CHD7 gene: the experience of a commercial laboratory.
Article in Genetic testing and molecular biomarkers, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed.
- Phenotyping and hierarchical clustering in genetically unresolved DSD identifies distinct multisystem clinical subgroups-a DSDgene study.Journal of the Endocrine Society · 2026Article
- [Clinical phenotype and genetic analysis of 7 neonates with CHARGE syndrome caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- [Kallmann syndrome in a girl caused by a novelZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- A case report of CHARGE syndrome caused by a de novoSAGE open medical case reports · 2024Article
- Article
- Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series.International journal of molecular sciences · 2023Article
- Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients.Biomedicines · 2023Article
- Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report.BMC ophthalmology · 2022Article
- Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort.Frontiers in genetics · 2022Article
- New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.Archives of medical science : AMS · 2022Article
- A novel heterozygous mutation of CHD7 gene in a Chinese patient with Kallmann syndrome: a case report.BMC endocrine disorders · 2021Article
- Classification ofFrontiers in genetics · 2021Article
- Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing.Life (Basel, Switzerland) · 2020Article
- Neonatal presentation of growth hormone deficiency in CHARGE syndrome: the benefit of early treatment on long-term growth.Archives of endocrinology and metabolism · 2020Article
- High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism.Scientific reports · 2019Article
- An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome.Scientific reports · 2018Article
- Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- An unclassified variant ofHuman genome variation · 2018Article
- Functional Analyses of a Novel Splice Variant in theFrontiers in genetics · 2018Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
CHARGE syndrome is an autosomal dominant multisystem disorder caused by mutation in the CHD7 gene, encoding chromodomain helicase DNA-binding protein 7. Molecular diagnostic testing for CHD7 mutation has been available in a clinical setting since 2005. We report here the results from the first 642 unrelated proband samples submitted for testing. Thirty-two percent (n = 203) of patient samples had a heterozygous pathogenic variant identified. The lower mutation rate than that published for well-characterized clinical samples is likely due to referral bias, as samples submitted for clinical testing may be for "rule-out" diagnoses, rather than solely to confirm clinical suspicion. We identified 159 unique pathogenic mutations, and of these, 134 mutations were each seen in a single individual and 25 mutations were found in two to five individuals (n =69). Of the 203 mutations, only 9 were missense, with 107 nonsense, 69 frameshift, and 15 splice-site mutations likely leading to haploinsufficiency at the cellular level. An additional 72 variations identified in the 642 tested samples (11%) were considered to have unknown clinical significance. Copy number changes (deletion/duplication of the entire gene or one/several exons) were found to account for a very small number of cases (n = 3). This cohort represents the largest CHARGE syndrome sample size to date and is intended to serve as a resource for clinicians, genetic counselors, researchers, and other diagnostic laboratories.
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