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Article

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

Nature genetics - 1 Sept 2004

Vissers Lisenka E L M, van Ravenswaaij Conny M A, Admiraal Ronald, Hurst Jane A, de Vries Bert B A, Janssen Irene M, van der Vliet Walter A, Huys Erik H L P G, de Jong Pieter J, Hamel Ben C J, Schoenmakers Eric F P M, Brunner Han G, Veltman Joris A, van Kessel Ad Geurts

Abstract excerpt

CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array comparative genomic hybridization in two individuals with CHARGE syndrome. Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without...

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Source

Identifiers

PMID: 15300250
DOI: 10.1038/ng1407

Genes

CHD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.PMID 15300250Read ↗

Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.Semantic proximity Read ↗

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.Semantic proximity Read ↗

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7.Semantic proximity Read ↗

8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: case report and critical review of the literature.Semantic proximity Read ↗

Mutation update on the CHD7 gene involved in CHARGE syndrome.Semantic proximity Read ↗

Duplication 2p25 in a child with clinical features of CHARGE syndrome.Semantic proximity Read ↗

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.Semantic proximity Read ↗

Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twinsSemantic proximity Read ↗

CHARGE syndrome: a review.Semantic proximity Read ↗

Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.Semantic proximity Read ↗

[Clinical phenotype and analysis of CHD7 gene variants in three children patients with CHARGE syndrome].Semantic proximity Read ↗

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.Semantic proximity Read ↗

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