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

Mutations in the pre-replication complex cause Meier-Gorlin syndrome
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, 2, 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.

1061-4036
356-359
Bicknell, Louise S.
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Bongers, Ernie M.H.F.
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Leitch, Andrea
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Brown, Stephen
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Schoots, Jeroen
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Harley, Margaret E.
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Aftimos, Salim
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Al-Aama, Jumana Y.
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Bober, Michael
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Brown, Paul A.J.
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van Bokhoven, Hans
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Dean, John
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Edrees, Alaa Y.
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Feingold, Murray
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Fryer, Alan
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Hoefsloot, Lies H.
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Kau, Nikolaus
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Knoers, Nine V.A.M.
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MacKenzie, James
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Opitz, John M.
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Sarda, Pierre
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Ross, Alison
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Temple, I. Karen
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Toutain, Annick
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Wise, Carol A.
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Wright, Michael
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Jackson, Andrew P.
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Bicknell, Louise S.
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Bongers, Ernie M.H.F.
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Leitch, Andrea
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Brown, Stephen
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Schoots, Jeroen
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Harley, Margaret E.
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Aftimos, Salim
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Al-Aama, Jumana Y.
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Bober, Michael
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Brown, Paul A.J.
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van Bokhoven, Hans
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Dean, John
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Edrees, Alaa Y.
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Feingold, Murray
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Fryer, Alan
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Hoefsloot, Lies H.
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Kau, Nikolaus
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Knoers, Nine V.A.M.
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MacKenzie, James
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Opitz, John M.
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Sarda, Pierre
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Ross, Alison
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Temple, I. Karen
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Toutain, Annick
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Wise, Carol A.
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Wright, Michael
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Jackson, Andrew P.
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Bicknell, Louise S., Bongers, Ernie M.H.F., Leitch, Andrea, Brown, Stephen, Schoots, Jeroen, Harley, Margaret E., Aftimos, Salim, Al-Aama, Jumana Y., Bober, Michael, Brown, Paul A.J., van Bokhoven, Hans, Dean, John, Edrees, Alaa Y., Feingold, Murray, Fryer, Alan, Hoefsloot, Lies H., Kau, Nikolaus, Knoers, Nine V.A.M., MacKenzie, James, Opitz, John M., Sarda, Pierre, Ross, Alison, Temple, I. Karen, Toutain, Annick, Wise, Carol A., Wright, Michael and Jackson, Andrew P. (2011) Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nature Genetics, 43 (4), 356-359. (doi:10.1038/ng.775). (PMID:21358632)

Record type: Article

Abstract

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, 2, 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.

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Published date: 27 February 2011
Organisations: Human Genetics

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Local EPrints ID: 178015
URI: https://eprints.soton.ac.uk/id/eprint/178015
ISSN: 1061-4036
PURE UUID: 42554a70-478b-4433-9da8-12618db149b2

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Date deposited: 22 Mar 2011 14:31
Last modified: 18 Jul 2017 12:05

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Contributors

Author: Louise S. Bicknell
Author: Ernie M.H.F. Bongers
Author: Andrea Leitch
Author: Stephen Brown
Author: Jeroen Schoots
Author: Margaret E. Harley
Author: Salim Aftimos
Author: Jumana Y. Al-Aama
Author: Michael Bober
Author: Paul A.J. Brown
Author: Hans van Bokhoven
Author: John Dean
Author: Alaa Y. Edrees
Author: Murray Feingold
Author: Alan Fryer
Author: Lies H. Hoefsloot
Author: Nikolaus Kau
Author: Nine V.A.M. Knoers
Author: James MacKenzie
Author: John M. Opitz
Author: Pierre Sarda
Author: Alison Ross
Author: I. Karen Temple
Author: Annick Toutain
Author: Carol A. Wise
Author: Michael Wright
Author: Andrew P. Jackson

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