Novel COL4A2 variant in a large pedigree: Consequences and dilemmas
Pathogenic COL4A2 variants cause abnormalities in collagen production and can have serious implications for a range of organ systems, most notably the brain. Herein, we describe a large family of first‐degree relatives affected by a novel heterozygous variant in COL4A2 (c.3490G.A). A wide disease sp...
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Veröffentlicht in: | Clinical genetics 2017-10, Vol.92 (4), p.447-448 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | Pathogenic COL4A2 variants cause abnormalities in collagen production and can have serious implications for a range of organ systems, most notably the brain. Herein, we describe a large family of first‐degree relatives affected by a novel heterozygous variant in COL4A2 (c.3490G.A). A wide disease spectrum is described, from asymptomatic to symptomatic, including 2 children with porencephaly and co‐existing juvenile idiopathic polyarthritis. During a subsequent pregnancy, antenatal testing identified a positive fetus. In view of the literature, we review management and genetic counselling dilemmas. |
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ISSN: | 0009-9163 1399-0004 |
DOI: | 10.1111/cge.13016 |