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

Meier-Gorlin syndrome caused by ORC1 mutation associated with chromosomal breakage - coincidental finding or new feature of known syndrome? Endokrynol Pol. 2019 Jul 05;: Authors: Vojtková J, Čiljaková M, Jeseňák M, Bánovčin P 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. PMID: 31274184 [PubMed - as supplied by publisher]
Source: Endokrynologia Polska - Category: Endocrinology Authors: Tags: Endokrynol Pol Source Type: research