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Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication

Tijdschriftbijdrage - Tijdschriftartikel

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.
Tijdschrift: American journal of medical genetics : part A
ISSN: 1552-4825
Volume: 185
Pagina's: 571 - 574
Jaar van publicatie:2021
Trefwoorden:A1 Journal article
BOF-keylabel:ja
Toegankelijkheid:Open