open access

Ahead of print
Case report
Published online: 2019-06-12
Submitted: 2019-05-12
Accepted: 2019-06-02
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Meier-Gorlin syndrome caused by ORC1 mutation associated with chromosomal breakage – coincidental finding or new feature of known syndrome?

Jarmila Vojtková, Miriam Čiljaková, Miloš Jeseňák, Peter Bánovčin
DOI: 10.5603/EP.a2019.0032
·
Pubmed: 31274184

open access

Ahead of print
Case report
Published online: 2019-06-12
Submitted: 2019-05-12
Accepted: 2019-06-02

Abstract

Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome. 7-year-old girl with proportional short stature, microcephaly, micrognathia, small ears and absent patellae had normal karyotype with 8% of spontaneous chromosomal breakage. Homozygous mutation p.Phe89Ser(c.266T>A) in ORC1 gene was found by whole genome sequencing. She is regularly followed up for possible neoplasm development. To out knowledge, this is the first report of the association between MGS and DNA breakage.

Abstract

Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome. 7-year-old girl with proportional short stature, microcephaly, micrognathia, small ears and absent patellae had normal karyotype with 8% of spontaneous chromosomal breakage. Homozygous mutation p.Phe89Ser(c.266T>A) in ORC1 gene was found by whole genome sequencing. She is regularly followed up for possible neoplasm development. To out knowledge, this is the first report of the association between MGS and DNA breakage.

Get Citation

Keywords

Meier-Gorlin syndrome; ORC1 mutation; DNA breakage

About this article
Title

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

Journal

Endokrynologia Polska

Issue

Ahead of print

Published online

2019-06-12

DOI

10.5603/EP.a2019.0032

Pubmed

31274184

Keywords

Meier-Gorlin syndrome
ORC1 mutation
DNA breakage

Authors

Jarmila Vojtková
Miriam Čiljaková
Miloš Jeseňák
Peter Bánovčin

References (5)
  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.

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