AI Article Synopsis
- Intracerebral hemorrhage is uncommon in full-term neonates, with non-genetic factors and genetic variants in COL4A1 and COL4A2 being implicated.
- A case is reported of a neonate with hemorrhage who has a newly identified intragenic duplication in COL4A2, which may be a risk factor for the condition.
- Further screening for COL4A1 and COL4A2 duplications is suggested for the diagnosis of unexplained neonatal cerebral hemorrhages to enhance understanding of their potential impact.
Article Abstract
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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839436 | PMC |
| http://dx.doi.org/10.1002/ajmg.a.61988 | DOI Listing |
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