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.

中文翻译：

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具有基因内 COL4A2 重复的新生儿脑出血

脑出血在足月出生的新生儿中很少见。除了几个非遗传风险因素外， COL4A1和COL4A2的致病变异已被描述在新生儿脑出血的病理生理学中发挥作用。据我们所知，迄今为止，尚未在人类中报道过基因内 COL4A2重复。我们报告了一名患有脑出血和新发基因内 COL4A2重复的新生儿。虽然目前尚不清楚这种遗传因素是否完全解释了临床表型，但它可能至少是脑出血的一个危险因素。筛选基因内COL4A1和COL4A2作为胶原蛋白 IV 诊断的一部分，重复应被视为胎儿和新生儿不明原因脑出血检查的一部分，并收集更多关于这种遗传机制致病性的证据。