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Article

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

Human mutation - 1 Aug 2012

Bergman Jorieke E H, Janssen Nicole, van der Sloot Almer M, de Walle Hermien E K, Schoots Jeroen, Rendtorff Nanna D, Tranebjaerg Lisbeth, Hoefsloot Lies H, van Ravenswaaij-Arts Conny M A, Hofstra Robert M W

Abstract excerpt

CHARGE syndrome is characterized by the variable occurrence of multisensory impairment, congenital anomalies, and developmental delay, and is caused by heterozygous mutations in the CHD7 gene. Correct interpretation of CHD7 variants is essential for genetic counseling. This is particularly difficult for missense variants because most variants in the CHD7 gene are private and a functional assay is not yet...

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Source

Identifiers

PMID: 22539353
DOI: 10.1002/humu.22106

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.

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