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References OMIM Gene GeneReviews HGMD HGNC
last update : 14-10-2014
Symbol MGORS1
Location 1p32.3
Name Meier-Gorlin syndrome 1
Corresponding gene ORC1
Main clinical features
  • severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Remark(s) . ORC1 mutations impair replication licensing, slowing cell cycle progression and consequently impeding growth during development, particularly at times of rapid proliferation (PMID: 21358633))
  • ORC1-deficient cells have impaired centrosome and centriole copy number, and they also display a striking defect in the rate of formation of primary cilia, leading to bone development abnormalities (PMID: 23516378))