title: Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3.
abstract: Mutations in genes encoding the origin recognition complex subunits cause Meier-Gorlin syndrome. The disease manifests a triad of short stature, small ears, and small and/or absent patellae with variable expressivity. We report on the identification of a homozygous deleterious mutation in the ORC6 gene in previously described fetuses at the severe end of the Meier-Gorlin spectrum. The phenotype included severe intrauterine growth retardation, dislocation of knees, gracile bones, clubfeet, and small mandible and chest. To date, the clinical presentation of ORC6-associated Meier-Gorlin syndrome has been mild compared to other the phenotype associated with other loci. The present report expands the clinical phenotype associated with ORC6 mutations to include severely abnormal embryological development suggesting a possible genotype-phenotype correlation.
authors.affiliation: Genetics Institute, Ha'Emek Medical center, Afula, Israel; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
authors.forename: Stavit Allon
authors.initials: SA
authors.lastname: Shalev
authors.forename: Morad
authors.initials: M
authors.lastname: Khayat
authors.forename: Daniel-Spiegl
authors.initials: DS
authors.lastname: Etty
authors.forename: Orly
authors.initials: O
authors.lastname: Elpeleg
mesh_terms: D065817:Congenital Microtia / Q000175:diagnosis* / Q000235:genetics*; D003241:Consanguinity; D059472:Exome; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D008844:Micrognathism / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D051738:Origin Recognition Complex / Q000235:genetics*; D010329:Patella / Q000002:abnormalities*; D010375:Pedigree; D010641:Phenotype; D016216:Ultrasonography, Prenatal
chemical_list: D051738:Origin Recognition Complex
keywords: Meier-Gorlin syndrome; exome sequencing; phenotype-genotype correlation