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
Hauptverfasser: McGovern, M., Flanagan, O., Lynch, B., Lynch, S.A., Allen, N.M.
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.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.13016