What are the different ways a genetic condition can be inherited? COL4A1 Mutations Cause Neuromuscular Disease with - ScienceDirect (2006) 43:4905. For example, Type I collagen mutations cause Osteogenesis Imperfecta (brittle bone disease), Type II collagen mutations cause chondrodysplasias (defects of cartilage) and mutations in Type III collagen cause a form of Ehlers-Danlos Syndrome. Type IV collagen is an important component of basement membranes in many tissues, especially blood vessels 1-6. In the eye, patients may have retinal arteriolar tortuosities and retinal hemorrhages or anterior segment dysgenesis. Vermeulen RJ, Peeters-Scholte C, Van Vugt JJMG, Barkhof F, Rizzu P, Van der Schoor SRD, et al. 2021 Sep 10;13:727590. doi: 10.3389/fnagi.2021.727590. More info about Gould Syndrome is available at https://rarediseases.org/rare-diseases/col4a1-a2-related-disorders/. As the name suggests, mutations in the COL4A1 gene cause COL4A1-related brain small vessel disease. The COL4A1 gene mutations that cause COL4A1-related brain small-vessel disease result in the production of a protein that disrupts the structure of type IV collagen. She had seizures every day, couldnt gain weight, sleep right, or generally enjoy her life. We therefore began our analysis of mutant Col4a1 G498V mice by examining the retinal vascular network at three and nine months of age. doi: 10.1212/WNL.0b013e3181eee440, 28. Developmental defects to the front of the eye, which also includes the ocular drainage structures between the iris and cornea, can lead to increased pressure in the eye (elevated intraocular pressure, or IOP). Novel heterozygous COL4A2 variant c.2572A>G, p.(I858V) mimicking Sneddon's and Divry van Bogaert Syndrome. Stroke is often the first symptom of this condition, typically occurring in mid-adulthood. Agenesis of the Corpus Callosum | National Institute of Neurological An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues, including the brain. Neurol. Illumina's Sequencing by Synthesis (SBS) technology (MiSeq Personal Sequencer, Illumina) analyzed the generated amplicons. COL4A1 collagen type IV alpha 1 chain [ (human)] - National Center for COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy. Individuals with COL4A1 or COL4A2 mutations can also develop formation of clefts or slits in the two halves of the brain (schizencephaly) in which cerebral hemispheres are missing and replaced with sacs filled with cerebrospinal fluid (hydranencephaly), abnormal folds in the brain surface (polymicrogyria) or abnormalities in the normal laying of the neuronal cells in the brain (cortical lamination defects). Aura refers to additional neurological symptoms that occur with, or sometimes before, the development of the migraine headache. Prenatal clinical manifestations in individuals with COL4A1/2 variants. Danbury, CT 06810 doi: 10.1212/WNL.0000000000006567, PubMed Abstract | CrossRef Full Text | Google Scholar, 2. The causative gene of HANAC is COL4A1 (13q34) encoding the alpha1 chain of collagen IV, a major component of basement membranes also involved in . Surgery or endovascular therapy can be used to treat intracranial hemorrhage. To use the sharing features on this page, please enable JavaScript.
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