Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication
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 h...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2021-02, Vol.185 (2), p.571-574 |
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| container_title | American journal of medical genetics. Part A |
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| creator | Koene, Saskia Peeters‐Scholte, Cacha M. P. C. D. Knijnenburg, Jeroen Vries, Linda S. Scheltema, Phebe N. Adama Meuwissen, Marije E. Steggerda, Sylke J. Santen, Gijs W. E. |
| description | 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. |
| doi_str_mv | 10.1002/ajmg.a.61988 |
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P. C. D. ; Knijnenburg, Jeroen ; Vries, Linda S. ; Scheltema, Phebe N. Adama ; Meuwissen, Marije E. ; Steggerda, Sylke J. ; Santen, Gijs W. E.</creator><creatorcontrib>Koene, Saskia ; Peeters‐Scholte, Cacha M. P. C. D. ; Knijnenburg, Jeroen ; Vries, Linda S. ; Scheltema, Phebe N. Adama ; Meuwissen, Marije E. ; Steggerda, Sylke J. ; Santen, Gijs W. E.</creatorcontrib><description>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.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.61988</identifier><identifier>PMID: 33247988</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>antenatal intracerebral hemorrhage ; Clinical Report ; Clinical Reports ; COL4A2 ; Collagen (type IV) ; Fetuses ; Hemorrhage ; neonatal intracerbral haemorrhage ; Neonates ; Pathogenicity ; Phenotypes ; Risk factors</subject><ispartof>American journal of medical genetics. Part A, 2021-02, Vol.185 (2), p.571-574</ispartof><rights>2020 The Authors. published by Wiley Periodicals LLC.</rights><rights>2020 The Authors. 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| subjects | antenatal intracerebral hemorrhage Clinical Report Clinical Reports COL4A2 Collagen (type IV) Fetuses Hemorrhage neonatal intracerbral haemorrhage Neonates Pathogenicity Phenotypes Risk factors |
| title | Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication |
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