open access
Meier-Gorlin syndrome caused by ORC1 mutation associated with chromosomal breakage — coincidental finding or new feature of known syndrome?
, 1, 1, 1
Affiliations- Department of Paediatrics, Comenius University in Bratislava, Jessenius Faculty of Medicine and University Teaching Hospital, Martin, Slovakia
open access
Abstract
Abstract
About this articleTitle
Meier-Gorlin syndrome caused by ORC1 mutation associated with chromosomal breakage — coincidental finding or new feature of known syndrome?
Journal
Issue
Article type
Clinical vignette
Pages
457-459
Published online
2019-06-12
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1113
Article views/downloads
122
DOI
Pubmed
Bibliographic record
Endokrynol Pol 2019;70(5):457-459.
Authors
Jarmila Vojtková
Miriam Čiljaková
Miloš Jeseňák
Peter Bánovčin
References (5)- de Munnik SA, Bicknell LS, Aftimos S, et al. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet. 2012; 20(6): 598–606.
- Watanabe K, Morishita J, Umezu K, et al. Involvement of RAD9-dependent damage checkpoint control in arrest of cell cycle, induction of cell death, and chromosome instability caused by defects in origin recognition complex in Saccharomyces cerevisiae. Eukaryot Cell. 2002; 1(2): 200–212.
- Lerit DA, Poulton JS. Centrosomes are multifunctional regulators of genome stability. Chromosome Res. 2016; 24(1): 5–17.
- Kerzendorfer C, Colnaghi R, Abramowicz I, et al. Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis. DNA Repair (Amst). 2013; 12(8): 637–644.
- Sanchez JC, Kwan EX, Pohl TJ, et al. Defective replication initiation results in locus specific chromosome breakage and a ribosomal RNA deficiency in yeast. PLoS Genet. 2017; 13(10): e1007041.
