Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication

Koene, S.; Peeters-Scholte, C.M.P.C.D.; Knijnenburg, J.; Vries, L.S. de; Scheltema, P.N.A. van; Meuwissen, M.E.; ... ; Santen, G.W.E. (2020)

Article / Letter to editor

Intracerebral hemorrhage is rare in term born neonates. Besides several non-genetic risk factors, pathogenic variants in COL4A1 and COL4A2 have been described to play a role in the pathophysiology of neonatal intracerebral hemorrhage. To the best of our knowledge, no intragenic COL4A2 duplications have been reported in humans to date. We report a neonate with intracerebral hemorrhage and a de novo intragenic COL4A2 duplication. Although it is not clear yet whether this genetic factor fully explains the clinical phenotype, it may have contributed at least as a risk factor for cerebral hemorrhage. Screening for intragenic COL4A1 and COL4A2 duplications as part of collagen IV diagnostics should be considered as part of the fetal and neonatal work-up for unexplained cerebral hemorrhages and to collect more evidence of the pathogenicity of this genetic mechanism.

• antenatal intracerebral hemorrhage
• neonatal intracerbral haemorrhage

• All authors: Koene, S.; Peeters-Scholte, C.M.P.C.D.; Knijnenburg, J.; Vries, L.S. de; Scheltema, P.N.A. van; Meuwissen, M.E.; Steggerda, S.J.; Santen, G.W.E.
• Date: 2020-11-28
• Journal: American Journal of Medical Genetics Part A
• Volume: 185
• Issue: 2
• Pages: 571 - 574
• DOI: doi:10.1002/ajmg.a.61988
• Link: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.61988