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Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication
Author(s) -
Koene Saskia,
PeetersScholte Cacha M. P. C. D.,
Knijnenburg Jeroen,
Vries Linda S.,
Scheltema Phebe N. Adama,
Meuwissen Marije E.,
Steggerda Sylke J.,
Santen Gijs W. E.
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61988
Subject(s) - intracerebral hemorrhage , gene duplication , phenotype , medicine , pathophysiology , biology , genetics , pathology , gene , subarachnoid hemorrhage
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.