A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis
KM Knapp, B Fellows, S Aggarwal, A Dalal… - European Journal of …, 2021 - Elsevier
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
in DNA replication, cause a spectrum of phenotypes ranging from MGORS with
craniosynostosis, through to isolated short stature and craniosynostosis. Here we report two
affected sibs with MGORS and craniosynostosis, with biallelic variants in CDC45 identified …
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
in DNA replication, cause a spectrum of phenotypes ranging from MGORS with
craniosynostosis, through to isolated short stature and craniosynostosis. Here we report two
affected sibs with MGORS and craniosynostosis, with biallelic variants in CDC45 identified …