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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Identification of a novel intronic variant in COL4A2 gene associated with fetal severe cerebral encephalomalacia and subdural hemorrhage.
BMC Med Genomics
September 2024
Department of Pediatrics, the First Affiliated Hospital of Wenzhou Medical University, No. 2 Fuxue Road, Wenzhou, Zhejiang, 325000, China.
Article Synopsis
- A fetus in China with an intronic variant in the COL4A2 gene was diagnosed prenatally with severe brain damage, including cerebral encephalomalacia and subdural hemorrhage.
- Whole exome sequencing identified a specific genetic variant (c.549 + 5G > A) that causes the COL4A2 protein to be shortened, due to skipping of an important exon.
- This research highlights the pathogenic nature of the variant and enhances the understanding of genetic contributions to fetal neurological disorders, which can aid in future genetic testing and counseling efforts.
Identification of Genetic Loci Associated With Intracerebral Hemorrhage Using a Multitrait Analysis Approach.
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From the Stroke Pharmacogenomics and Genetics Group (E.M., J.C.-M., L.L.-C., C.G.-F., N.C., M.L.L., J.M.M.-C., P.V.-G., I.F.-C.), Biomedical Research Institute Sant Pau (IIB SANT PAU); Epilepsy Unit (E.M., A.S.-M., V.R.-C.), Neurology Service, Hospital de la Santa Creu i Sant Pau, Barcelona; Stroke Pharmacogenomics and Genetics (N.C.), Fundació MútuaTerrassa per la Docència i la Recerca; and Department of Neurology (C.G.-F., A.A.-S., J.M.-F.), Hospital de la Santa Creu i Sant Pau, IIB SANT PAU, Barcelona, Spain.
Background And Objectives: Genome-wide association studies (GWASs) have only 2 loci associated with spontaneous intracerebral hemorrhage (ICH): for lobar and 1q22 for nonlobar ICH. We aimed to discover new loci through an analysis that combines correlated traits (multi-trait analysis of GWAS [MTAG]) and explore a gene-based analysis, transcriptome-wide association study (TWAS), and proteome-wide association study (PWAS) to understand the biological mechanisms of spontaneous ICH providing potential therapeutic targets.
Methods: We use the published MTAG of ICH (patients with spontaneous intraparenchymal bleeding) and small-vessel ischemic stroke.
Skeletal pathology in mouse models of Gould syndrome is partially alleviated by genetically reducing TGFβ signaling.
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Departments of Ophthalmology, University of California San Francisco, San Francisco, CA 94143, USA; Department of Anatomy, Institute for Human Genetics, Bakar Aging Research Institute, and Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA 94143, USA. Electronic address:
Skeletal defects are hallmark features of many extracellular matrix (ECM) and collagen-related disorders. However, a biological function in bone has never been defined for the highly evolutionarily conserved type IV collagen. Collagen type IV alpha 1 (COL4A1) and alpha 2 (COL4A2) form α1α1α2 (IV) heterotrimers that represent a fundamental basement membrane constituent present in every organ of the body, including the skeleton.
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