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Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Authors :: 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
Source :: 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
Publication Year :: 2011
Publisher :: Springer Science and Business Media LLC, 2011.
Abstract: 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.