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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
Nature Genetics, Volume 43, No. 4, Year 2011
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Description
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. 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. © 2011 Nature America, Inc. All rights reserved.
Authors & Co-Authors
Bicknell, Louise S.
United Kingdom, Edinburgh
Western General Hospital
Bongers, Ernie M.H.F.
Netherlands, Nijmegen
Radboud University Medical Center
Leitch, Andrea
United Kingdom, Edinburgh
Western General Hospital
Brown, Stephen D.M.
United Kingdom, Edinburgh
Western General Hospital
Schoots, Jeroen
Netherlands, Nijmegen
Radboud University Medical Center
Harley, Margaret E.
United Kingdom, Edinburgh
Western General Hospital
Aftimos, Salim
New Zealand, Auckland
Auckland City Hospital
Al-Aama, Jumana Yousuf
Saudi Arabia, Jeddah
King Abdulaziz University
Bober, Michael B.
United States, Wilmington
Alfred I. Dupont Hospital for Children
Brown, Paul A.J.
United Kingdom, Aberdeen
Aberdeen Royal Infirmary
van Bokhoven, Hans
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Dean, J.
Unknown Affiliation
Edrees, A.
Saudi Arabia, Jeddah
King Abdulaziz University
Feingold, Murray
United States, Waltham
National Birth Defects Center
Fryer, Alan E.
United Kingdom, Liverpool
Alder Hey Children's Hospital
Hoefsloot, Lies H.
Netherlands, Nijmegen
Radboud University Medical Center
Kau, Nikolaus
United Kingdom, Aberdeen
Aberdeen Maternity Hospital
Knoers, Nine V.A.M.
Netherlands, Utrecht
University Medical Center Utrecht
MacKenzie, James
United Kingdom, Aberdeen
Aberdeen Royal Infirmary
Opitz, John M.
United States, Salt Lake City
The University of Utah
Sarda, Pierre
France, Montpellier
Hopital Arnaud de Villeneuve
Ross, Alison
Unknown Affiliation
Temple, I. Karen
United Kingdom, Southampton
University of Southampton
Toutain, Annick M.
France, Tours
Hopital Bretonneau
Wise, Carol A.
United States, Dallas
Texas Scottish Rite Hospital for Children
Wright, Michael J.
United Kingdom, Newcastle
Northern Genetics Service
Jackson, Andrew P.
United Kingdom, Edinburgh
Western General Hospital
Statistics
Citations: 249
Authors: 27
Affiliations: 17
Identifiers
Doi:
10.1038/ng.775
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Genetics And Genomics