Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis

We describe the first patient with a homozygous disease-causing missense variant in GINS2, a gene that encodes for a component of the DNA replication machinery. Our patient presented with craniosynostosis and fulfilled the clinical diagnosis of Meier-Gorlin syndrome (MGORS), including prenatal and postnatal growth delay, hypoplastic patellar, and typical craniofacial dysmorphisms, such as microtia. The patient’s phenotype is strikingly similar to the phenotype of individuals with CDC45 variants, particularly those who presented with craniosynostosis and mild MGORS features. In summary, we propose GINS2 as a new disease-associated gene, expanding the genetic aetiology of MGORS. (By Dr Maria J Nabais Sá, http://dx.doi.org/10.1136/jmedgenet-2020-107572 )

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