Vol 70, No 5 (2019)
Clinical vignette
Published online: 2019-06-12

open access

Page views 1173
Article views/downloads 143
Get Citation

Connect on Social Media

Connect on Social Media

Meier-Gorlin syndrome caused by ORC1 mutation associated with chromosomal breakage — coincidental finding or new feature of known syndrome?

Jarmila Vojtková1, Miriam Čiljaková1, Miloš Jeseňák1, Peter Bánovčin1
Pubmed: 31274184
Endokrynol Pol 2019;70(5):457-459.

Abstract

Not available

Article available in PDF format

View PDF Download PDF file

References

  1. 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.
  2. 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.
  3. Lerit DA, Poulton JS. Centrosomes are multifunctional regulators of genome stability. Chromosome Res. 2016; 24(1): 5–17.
  4. 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.
  5. 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.