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Article

An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome.

Scientific reports - 3 Apr 2018

Ogier Jacqueline M, Arhatari Benedicta D, Carpinelli Marina R, McColl Bradley K, Wilson Michael A, Burt Rachel A

Abstract excerpt

Alternate splicing is a critical regulator of gene expression in eukaryotes, however genetic mutations can cause erroneous splicing and disease. Most recorded splicing disorders are caused by mutations of splice donor/acceptor sites, however intronic mutations can affect splicing. Clinical exome analyses largely ignore intronic sequence, limiting the detection of mutations to within coding regions. We describe...

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Source

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Identifiers

PMID: 29615807
DOI: 10.1038/s41598-018-23856-8
PMCID: PMC5882948

Genes

CHD7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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