A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104182
Abstract: Disruption of the initiation of DNA replication is significantly associated with Meier-Gorlin syndrome (MGORS), an autosomal recessive condition of reduced growth, microtia and patellar a/hypoplasia. Biallelic mutations in CDC45, a member of the pre-initiation complex… read more here.
Keywords: craniosynostosis; cdc45; exon; meier gorlin ... See more keywords
Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome
Sign Up to like & getrecommendations! Published in 2022 at "JCI Insight"
DOI: 10.1172/jci.insight.155648
Abstract: The eukaryotic CDC45/MCM2-7/GINS (CMG) helicase unwinds the DNA double helix during DNA replication. The GINS subcomplex is required for helicase activity and is, therefore, essential for DNA replication and cell viability. Here, we report the… read more here.
Keywords: replication; gins3; meier gorlin; gorlin syndrome ... See more keywords