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Article

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.

Human molecular genetics - 15 Jul 2010

Batsukh Tserendulam, Pieper Lasse, Koszucka Anna M, von Velsen Nina, Hoyer-Fender Sigrid, Elbracht Miriam, Bergman Jorieke E H, Hoefsloot Lies H, Pauli Silke

Abstract excerpt

CHARGE syndrome is an autosomal dominant disorder caused in about two-third of cases by mutations in the CHD7 gene. For other genetic diseases e.g. hereditary spastic paraplegia, it was shown that interacting partners are involved in the underlying cause of the disease. These data encouraged us t...

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Source

Identifiers

PMID: 20453063
DOI: 10.1093/hmg/ddq189

Genes

CHD7
CHD8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20453063-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.PMID 20453063Read ↗

Gene symbol: CHD7. Disease: CHARGE syndrome.Semantic proximity Read ↗

CHARGE syndrome and CHD7 gene mutation.Semantic proximity Read ↗

Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndromeSemantic proximity Read ↗

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

Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.Semantic proximity Read ↗

CHARGE syndrome: a review.Semantic proximity Read ↗

A novel CHD7 variant in a chinese family with CHARGE syndrome.Semantic proximity Read ↗

[CHARGE syndrome: a new mutation in the CHD7 gene].Semantic proximity Read ↗

Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disordersSemantic proximity Read ↗

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

Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactyly.Semantic proximity Read ↗

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.Semantic proximity Read ↗

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