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A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.

Amytice MirchiAlexa DerksenLuan T TranIsabelle De BieAmélie NadeauAudrey LovettAnja RaamsWim VermeulenArjan F TheilGeneviève Bernard
Published in: Neurogenetics (2022)
Cockayne syndrome is a rare inherited DNA repair multisystemic disorder. Here, we aim to raise awareness of the phenotypic resemblances between Cockayne syndrome and the neurodevelopmental disorder caused by pathogenic variants in MORC2, a gene also involved in DNA repair. Using exome sequencing, we identified a de novo pathogenic variant in MORC2 in our patient. Our patient's phenotype was characterized by multiple features evocative of Cockayne syndrome. Based on our patient's phenotype, in addition to the phenotypic description of patients with pathogenic variants in MORC2 reported in the literature, we suggest that pathogenic variants in this gene are associated with a Cockayne-like phenotype.
Keyphrases
  • dna repair
  • copy number
  • case report
  • dna damage
  • dna damage response
  • genome wide
  • systematic review
  • dna methylation
  • single cell
  • genome wide identification
  • congenital heart disease
  • genome wide analysis