Mutations in the pre-replication complex cause Meier-Gorlin syndrome
Copyright policy )Mutations in the pre-replication complex cause Meier-Gorlin syndrome
Meier-Gorlin syndrome (ear, patella and short-stature syndrome) is an autosomal recessive primordial dwarfism syndrome characterized by absent or hypoplastic patellae and markedly small ears¹⁻³. Both pre- and post-natal growth are impaired in this disorder, and although microcephaly is often evident, intellect is usually normal in this syndrome. We report here that individuals with this disorder show marked locus heterogeneity, and we identify mutations in five separate genes: ORC1, ORC4, ORC6, CDT1 and CDC6. All of these genes encode components of the pre-replication complex, implicating defects in replication licensing as the cause of a genetic syndrome with distinct developmental abnormalities.
- University of Southampton United Kingdom
- NHS Lothian United Kingdom
- Texas Scottish Rite Hospital for Children United States
- Radboud University Nijmegen Netherlands
- Utrecht University Netherlands
Male, /dk/atira/pure/subjectarea/asjc/1300/1311, Micrognathism/genetics, DCN 2: Functional Neurogenomics, Micrognathism, Molecular Sequence Data, Mutation, Missense, Origin Recognition Complex, 610, Sequence Homology, Cell Cycle Proteins, Article, Ear/abnormalities, IGMD 3: Genomic disorders and inherited multi-system disorders, Patella/abnormalities, 616, Origin Recognition Complex/genetics, Genetics, Humans, Amino Acid Sequence, Frameshift Mutation, Growth Disorders, Congenital Microtia, DNA Primers, Cell Cycle Proteins/genetics, DNA Primers/genetics, Base Sequence, NCMLS 6: Genetics and epigenetic pathways of disease IGMD 9: Renal disorder, IGMD 9: Renal disorder, Nuclear Proteins, Ear, Growth Disorders/genetics, Patella, Pedigree, Nuclear Proteins/genetics, Amino Acid, Phenotype, Haplotypes, Mutation, Female, Missense
Male, /dk/atira/pure/subjectarea/asjc/1300/1311, Micrognathism/genetics, DCN 2: Functional Neurogenomics, Micrognathism, Molecular Sequence Data, Mutation, Missense, Origin Recognition Complex, 610, Sequence Homology, Cell Cycle Proteins, Article, Ear/abnormalities, IGMD 3: Genomic disorders and inherited multi-system disorders, Patella/abnormalities, 616, Origin Recognition Complex/genetics, Genetics, Humans, Amino Acid Sequence, Frameshift Mutation, Growth Disorders, Congenital Microtia, DNA Primers, Cell Cycle Proteins/genetics, DNA Primers/genetics, Base Sequence, NCMLS 6: Genetics and epigenetic pathways of disease IGMD 9: Renal disorder, IGMD 9: Renal disorder, Nuclear Proteins, Ear, Growth Disorders/genetics, Patella, Pedigree, Nuclear Proteins/genetics, Amino Acid, Phenotype, Haplotypes, Mutation, Female, Missense
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