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Article

Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome.

American journal of medical genetics. Part A - 1 Dec 2013

Vatta Matteo, Niu Zhiyv, Lupski James R, Putnam Philip, Spoonamore Katherine G, Fang Ping, Eng Christine M, Willis Alecia S

Abstract excerpt

Haploinsufficiency of CHD7 (OMIM# 608892) is known to cause CHARGE syndrome (OMIM# 214800). Molecular testing supports a definitive diagnosis in approximately 65-70% of cases. Most CHD7 mutations arise de novo, and no mutations affecting exon-7 have been reported to date. We report on an 8-year-old girl diagnosed with CHARGE syndrome that was referred to our laboratory for comprehensive CHD7 gene screening....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23956205
DOI: 10.1002/ajmg.a.36178
PMCID: PMC3926511

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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Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome.PMID 23956205Read ↗

Non-homologous end joining repair mechanism-mediated deletion of CHD7 gene in a patient with typical CHARGE syndrome.Semantic proximity Read ↗

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De novo Splice Site Mutation of the CHD7 Gene in a Chinese Patient with Typical CHARGE Syndrome.Semantic proximity Read ↗

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.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 ↗

Mutations in the CHD7 gene: the experience of a commercial laboratory.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 ↗

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.Semantic proximity Read ↗

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

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