Novel COL4A2 variant in a large pedigree: Consequences and dilemmas. Issue 4 (25th May 2017)

• Record Type: Journal Article
• Authors: McGovern, M.; Flanagan, O.; Lynch, B.; Lynch, S.A.; Allen, N.M.
• Is Part Of: Clinical genetics. Volume 92:Issue 4(2017)
• Page Start: 447
• Page End: 448
• Publication Date: 2017-05-25
• Subjects: arthritis -- cerebral palsy -- COL4A2 -- genetics -- neurology; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.13016
• Languages: English
• ISSNs: 0009-9163

Abstract

Abstract : 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.