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Article

Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.

American journal of medical genetics. Part A - 1 Feb 2021

Granadillo Jorge L, Wegner Daniel J, Paul Alexander J, Willing Marcia, Sisco Kathleen, Tedder Matthew L, Sadikovic Bekim, Wambach Jennifer A, Baldridge Dustin, Cole Francis Sessions

Abstract excerpt

Chromodomain helicase DNA-binding protein 7 (CHD7) pathogenic variants are identified in more than 90% of infants and children with CHARGE (Coloboma of the iris, retina, and/or optic disk; congenital Heart defects, choanal Atresia, Retardation of growth and development, Genital hypoplasia, and characteristic outer and inner Ear anomalies and deafness) syndrome. Approximately, 10% of cases have no known genetic...

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Identifiers

PMID: 33184947
DOI: 10.1002/ajmg.a.61962
PMCID: PMC8218330

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Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.PMID 33184947Read ↗

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

Multi-omic analyses identify molecular targets of Chd7 that contribute to CHARGE syndrome model phenotypes.Semantic proximity Read ↗

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

Chromodomain proteins in development: lessons from CHARGE syndromeSemantic proximity Read ↗

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.Semantic proximity Read ↗

Multi-omic analyses identify molecular targets of Chd7 that mediate CHARGE syndrome model phenotypesSemantic proximity Read ↗

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

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

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