Mutations in the pre-replication complex cause Meier-Gorlin syndrome
| Autor: | Hans van Bokhoven, John M. Opitz, Andrea Leitch, Stephen Brown, Jumana Y. Al-Aama, Michael B. Bober, Paul A.J. Brown, Salim Aftimos, Annick Toutain, Murray Feingold, Andrew P. Jackson, Jeroen Schoots, Ernie M.H.F. Bongers, John Dean, Alison Ross, Margaret E. Harley, I. Karen Temple, Michael Wright, Lies H. Hoefsloot, Alan Fryer, Alaa Y Edrees, James MacKenzie, Louise S. Bicknell, Carol Wise, Nine V A M Knoers, Pierre Sarda, Nikolaus Kau |
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| Rok vydání: | 2011 |
| Předmět: |
Male
Microcephaly Micrognathism/genetics Origin Recognition Complex Basal Cell Nevus Syndrome Sequence Homology Cell Cycle Proteins Pre-replication complex medicine.disease_cause Ear/abnormalities Patella/abnormalities Locus heterogeneity Origin Recognition Complex/genetics Micrognathism Frameshift Mutation Growth Disorders Renal disorder [IGMD 9] Genetics Mutation Nuclear Proteins Ear Patella Pedigree Amino Acid Phenotype Female Functional Neurogenomics [DCN 2] Molecular Sequence Data Mutation Missense Biology Article Genomic disorders and inherited multi-system disorders [IGMD 3] medicine Humans Amino Acid Sequence DNA Primers Congenital Microtia Cell Cycle Proteins/genetics DNA Primers/genetics Sequence Homology Amino Acid Base Sequence Growth Disorders/genetics medicine.disease Nuclear Proteins/genetics Haplotypes Genetics and epigenetic pathways of disease Renal disorder [NCMLS 6] Origin recognition complex Missense Primordial dwarfism |
| Zdroj: | Nature genetics Nature Genetics, 43(4), 356-359. Nature Publishing Group Bicknell, L S, Bongers, E M H F, Leitch, A, Brown, S, Schoots, J, Harley, M E, Aftimos, S, Al-Aama, J Y, Bober, M, Brown, P A J, van Bokhoven, H, Dean, J, Edrees, A Y, Feingold, M, Fryer, A, Hoefsloot, L H, Kau, N, Knoers, N V A M, Mackenzie, J, Opitz, J M, Sarda, P, Ross, A, Temple, I K, Toutain, A, Wise, C A, Wright, M & Jackson, A P 2011, ' Mutations in the pre-replication complex cause Meier-Gorlin syndrome ', Nature Genetics, vol. 43, no. 4, pp. 356-359 . https://doi.org/10.1038/ng.775 Nature Genetics, 43, 356-9 Nature Genetics, 43, 4, pp. 356-9 |
| ISSN: | 1546-1718 1061-4036 |
| DOI: | 10.1038/ng.775 |
| Popis: | Contains fulltext : 97141.pdf (Publisher’s version ) (Closed access) 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 ears(1)(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. |
| Databáze: | OpenAIRE |
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