(For more information on this disorder, choose cadasil as your search term in the Rare Disease Database. Powered by NORD, the IAMRARE Registry Platform is driving transformative change in the study of rare disease. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.). Liu X, Yang Q, Tang L, He J, Tian D, Wang B, Xie L, Li C, Fan D. Front Neurol. Drugs that prevent irregular heartbeats (anti-arrhythmic medications) are used to treat supraventricular arrythmia. For example, an individual may carry genetic variants elsewhere in their genome that confers protection or susceptibly to the mutation and environmental experiences (trauma, anticoagulant use, physical exertion etc.) 8600 Rockville Pike The first time he came to meet us, Zeeva threw a sock at him. Compared to other COL4A1-related disorders, the brain is only mildly affected in HANAC syndrome. What are the different ways a genetic condition can be inherited? Children inherit a full complement of chromosomes from each of their parent and so we carry two copies of each gene. As a result, type IV collagen molecules cannot attach to each other to form the protein networks in basement membranes. Firstly, it segregates within the family with the phenotype. Treatment trials will be critical to determine the long-term safety and effectiveness of specific medications and treatments for individuals with COL4A1/A2-related disorders. It affects mainly young adults, children and more typically neonates. Additionally, consultation with a genetic counselor is strongly recommended for affected individuals and their families and psychosocial support for the entire family is essential. Shah S, Kumar Y, McLean B, Churchill A, Stoodley N, Rankin J, et al. Lecordier S, Manrique-Castano D, El Moghrabi Y, ElAli A. (2002) 112:198202. BMC Med Genet. Acute urinary retention due to a novel collagen COL4A1 mutation. (2010). Unauthorized use of these marks is strictly prohibited. The signs and symptoms can manifest at almost any age from before birth to old age. Some of these patients have been described as having HANAC syndrome, which is an acronym for hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. J Perinatol. Type IV collagen is an important component of basement membranes in many tissues, especially blood vessels 1-6. Stroke. doi: 10.1212/WNL.0000000000006567, PubMed Abstract | CrossRef Full Text | Google Scholar, 2. Aguglia U, Gambardella A, Breedveld GJ, Oliveri RL, Le Piane E, Messina D, et al. COL4A1/A2-related disorders are believed to affect females and males in equal numbers. Role of COL4A1 in basement-membrane integrity and cerebral small-vessel disease. (2017) 5758:2944. mutations: a novel genetic multisystem disease. 2013;73:48-57. https://www.ncbi.nlm.nih.gov/pubmed/23225343, Kuo DS, Labelle-Dumais C, Gould DB. IV-3 was diagnosed with ventriculomegaly in utero. Ridker PM, Everett BM, Thuren T, MacFadyen JG, Chang WH, Ballantyne C, et al. COL4A1/A2-related disorders are dominant genetic disorders. It is important to discuss these concepts with a genetic counselor and understand their implications. We believe that the variant p.Gly743Val is likely pathogenic for several reasons. Childhood presentation of COL4A1 mutations. National Taiwan University Hospital, Taiwan, Kaohsiung Chang Gung Memorial Hospital, Taiwan, Carrera de Medicina, Universidad Cientfica del Sur, Peru, Federal University of Rio Grande do Sul, Brazil. She also showed severe hypermetropia. Federal government websites often end in .gov or .mil. Oral expression was reduced and neuropsychological testing revealed language delay with a prominent expression deficit. All authors contributed to the article and approved the submitted version. doi: 10.1126/science.1109418, 5. The p.Gly743Val variant is a conservative substitution that occurs in a position highly conserved across species (SIFT analysis: DeleteriousScore 0, median: 4.22, highly conserved nucleotide and amino acid, up to Tetraodon considering 11 species) and affects a crucial and abundant residue within the triple-helix-forming collagenous domain of the protein, which consist of long stretches of Gly-X-Y repeats. This can lead to problems 1) if too much of the misfolded protein accumulates within cells, 2) if not enough of the protein exits the cells to form networks, and 3) occasionally, the presence of the mutant proteins outside the cells can interfere with the structure of the network. 2012;54:569-574. https://www.ncbi.nlm.nih.gov/pubmed/22574627, Lanfranconi S, Markus HS. Raynaud phenomenon is typically triggered by changes in temperature and usually causes no long term damage. 2009;73:1873-1882. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2881859/, Mao, M, Alavi MV, Labelle-Dumais, C, Gould DB. More info about Gould Syndrome is available at https://rarediseases.org/rare-diseases/col4a1-a2-related-disorders/. All patients suffering from HANAC syndrome display retinal arteriolar tortuosity and occasional retinal hemorrhages. September 2003. 2010;17(13):1317-24. doi: COL4A1-related brain small-vessel disease is part of a group of conditions called the COL4A1-related disorders. Individuals with COL4A1/A2-related disorders have characteristic patterns of brain disease when viewed under advanced imaging techniques. Dominant genetic disorders occur when only a single copy of a non-working gene is necessary to cause a particular disease. When we didnt feel we had any options left for treatment, PV and VW followed the children at the Neuropediatrics clinic of the same hospital. She had seizures every day, couldnt gain weight, sleep right, or generally enjoy her life. 1779 Massachusetts Avenue Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. COL4A1 is an essential component for basal membrane stability and exon mutations of COL4A1 gene mutations are responsible for a broad spectrum of systemic manifestations characterized by small vessel involvement of variable severity, including neurological (1) [porencephaly (24), hemorrhage (2, 57) and aneurysms (8)], ophthalmological (912) (retinal artery tortuosity, Axenfeld Rieger anomalies, cataracts, and severe hypermetropia), renal (13) (renal cysts, and microscopic hematuria), and systemic (13) findings (cramps with a high creatine kinase level [CK], Raynaud's phenomenon, and arrhythmias). Phone: 617-249-7300, Danbury, CT office I cannot describe the feeling of seeing your child healed. doi: 10.1212/WNL.0b013e3181eee440, 28. 2007 Aug;62(2):177-84. doi: 10.1002/ana.21191. There are notable differences in the specific signs and symptoms (clinical heterogeneity), and different organs are affected to different degrees between patients even among members of a family who carry the same gene mutation. Contact a health care provider if you have questions about your health. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Abnormal blood vessels in the brain are a major consequence of COL4A1 and COL4A2 gene mutations. There are no standardized treatment protocols or guidelines for affected individuals. COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets. Clin Neurol Neurosurg. Unable to load your collection due to an error, Unable to load your delegates due to an error. can also contribute. Another limitation is the systemic work-up based on described phenotypes and supposed affected organs. Copyright 2023 NORD National Organization for Rare Disorders, Inc. All rights reserved. Born at term after a 39-week pregnancy, IV-3 had an unremarkable first clinical evaluation at 3 months. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282239/. Glaucoma is initially treated with topical medications and, if medical therapy is unsuccessful, surgery. To better define pathology caused by Col4a1 mutations, we characterized myopathy in two different Col4a1 mutant mouse strainsCol4a1 ex41 and Col4a1 G394V.We selected these strains from an allelic series of Col4a1 mutant mice because they showed the most severe myopathy according to NPN quantification in quadriceps while having different effects on [1(IV)] 2 2(IV) secretion. Staals J, Makin SDJ, Doubal FN, Dennis MS, Wardlaw JM. Pediatr Neurol. Additional features include poor or absent speech development, facial paralysis (paresis), involuntary muscle spasms (spasticity) that result in slow, stiff, rigid movements, visual field defects, and hydrocephalus, a condition in which accumulation of excessive cerebrospinal fluid in the skull causes pressure on the tissues of the brain, resulting in a variety of symptoms. Shah S, Ellard S, Kneen R, Lim M, Osborne N, Rankin J, et al. This study clearly demonstrates that COL4A1 and COL4A2 mutations cause clinically variable cerebrovascular disease that includes characteristic features of cerebral small vessel disease. Most individuals diagnosed with a COL4A1-related disorder have an affected parent. MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. Our review highlights that COL4A1 mutations can present for the first time in adult life with features of cerebral SVD, including subcortical hemorrhage and ischemic stroke, . 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). Last updated: cuts under the microscope. Affected infants and children can exhibit delays in reaching developmental milestones and varying degrees of intellectual disability. The retina is the light-sensitive membrane that lines the inside of the eyes. During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures. The proportion of cases caused by a de novopathogenic variant is estimated to be at least 27%. The human phenotypes are extremely variable between patients and between families, with disease onset as early as in the fetal period. The team may eventually include pediatric neurologists (diagnose and treat disorders of the brain, nerves and nervous system in children); ophthalmologists (who specialize in eye disorders) hematologists (who specialize in blood disorders); cardiologists (who specialize in heart disorders, nephrologists (who specialize in kidney disorders) and other healthcare professionals may need to systematically and comprehensively plan treatment. 30. Rarely, affected individuals will have a condition called Raynaud phenomenon in which the blood vessels in the fingers and toes temporarily narrow, restricting blood flow to the fingertips and the ends of the toes. Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. (2013) 73:4857. COL4A1-related brain small-vessel disease is a rare condition, although the exact prevalence is unknown. People with HANAC syndrome develop kidney disease (nephropathy). Cavalin M, Mine M, Philbert M, et al. IV-5 had microcephaly without motor deficits, a language delay, a mental retardation (IQ of 62) that required adapted schooling, and severe hypermetropia. It is ubiquitously expressed in many tissues and cell types. Danbury, CT 06810 (2010) 75:7479. Xia XY, Li N, Cao X, Wu QY, Li TF, Zhang C, et al. She has regular physical, speech, and occupational therapy. Some may only develop specific symptoms such as isolated migraines or strokes in childhood or adulthood. Please note that NORD provides this information for the benefit of the rare disease community. A diagnosis can be confirmed through molecular genetic testing. MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations. The networks formed by the COL4A1 and COL4A2 proteins are called basement membranes and are present in every organ of the body. HANAC syndrome is characterized by angiopathy, which is a disorder of the blood vessels. doi: 10.1016/j.ejpn.2009.04.010, 27. He underwent at birth neurosonography for axial hypotonia that revealed ventricular asymmetry and right frontotemporal dilatation (Figure 3). Nearly half of these participants were diagnosed with infantile spasms. Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease. COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. COL4A1 -related brain small-vessel disease is characterized by weakening of the blood vessels in the brain. Surgery may be necessary for individuals with severe cataracts. Individuals with HANAC syndrome also experience a variety of eye problems. Combinations of the in silico tool MutationTaster (21) and the Alamut software (ALAMUT package, http://www.interactivebiosoftware.com, France) predicted the variant to be pathogenic as it likely alters the protein structure/function due to a detrimental effect on 112 heterotrimers formation and type IV collagen stability. Going from having seizures every day for six years to having no seizures is nothing short of a miracle. With genetic disorders, the type of mutation, or its location in the gene can sometimes be associated with varying outcomes. The .gov means its official. There is in addition a specific phenotype called HANAC with constant nephropathy, muscle cramps and frequent intracranial aneurysms. Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects. The information on this site should not be used as a substitute for professional medical care or advice. In the brain, intracerebral hemorrhage is the most frequent phenotype. Muscle cramps can be spontaneous or triggered by exercise. One patient (IV-3) was treated for spasticity and seizures with valproic acid. Axenfeld-Rieger anomaly and cataract can cause impaired vision. 1. Dr. Joseph Madsen was as wonderful in person as he had been on the phone. Therapies are based on the specific symptoms in each individual. National Library of Medicine HANAC syndrome is characterized by angiopathy, which is a disorder of the blood vessels. 10.2174/092986710790936293. They are typically characterized by abnormal blood vessels in the brain (cerebral vasculature defects), eye development defects (ocular dysgenesis), muscle disease (myopathy), and kidney abnormalities (renal pathology); however, many other aspects of the syndrome including abnormalities affecting the structure of the brain (cerebral cortical abnormalities) and lung (pulmonary) abnormalities continue to emerge and the full spectrum is still uncharacterized. I dont think we will ever be able to truly articulate our appreciation for Dr. Madsen and Boston Childrens for all that they did for Zeeva and our family. Migraines can occur with or without aura. A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly. Colin E, Sentilhes L, Sarfati A, Mine M, Guichet A, Ploton C, et al. Danbury, CT 06810 Vilain C, Van Regemorter N, Verloes A, David P, Van Bogaert P. Neuroimaging fails to identify asymptomatic carriers of familial porencephaly. Other patients have been reported with cysts on the liver, irregular heartbeats (supraventricular arrhythmia), and Raynaud phenomenon, which is in which the fingers or toes become numb or have a prickly sensation in response to cold due to narrowing of blood vessels. The COL4A1 gene mutations that cause HANAC syndrome result in the production of a protein that disrupts the structure of type IV collagen. Still other individuals may not develop any symptoms until well into adulthood. Collagen alpha-1(IV) chain (COL4A1) is a protein that in humans is encoded by the COL4A1 gene on chromosome 13. If the mutation arises after fertilization, then some cells will carry the mutation and others will not this is called mosaicism. The COL4A1 and COL4A2 genes were screened in proband IV-6. Mutations in COL4A3, COL4A4 and COL4A5 were found in the early 1990's in patients with Alport Syndrome. He would separate the two halves of her brain by COL4A1/A2-related disorders follow an autosomal dominant pattern of inheritance. A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family. Fetal intracerebral hemorrhage and cataract: think COL4A1. Neuropediatrics. (2012) 54:56974. Type IV collagen networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature). 2010 (19). Probands' father had severe hypermetropia and bilateral cataracts. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. Cereb Circ Cogn Behav. The surgery These protein networks are the main components of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Type IV Collagens and Basement Membrane Diseases: Cell Biology and Pathogenic Mechanisms. Advanced imaging techniques can include computerized tomography (CT) scanning and magnetic resonance imaging (MRI). Yet, as for all COL4A1 mutations, no specific treatment is currently available, and, due to the variable penetrance, adapted follow-up is challenging. Alamowitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agtmael T, et al. (2007) 357:268795. We are a registered 501(c)3 Nonprofit dedicated to providing hope and help to children and adults with Gould Syndrome; affecting COL4A1 and COL4A2 genes. Suite 310 for the triple helical CB3[IV] domain. (2015) 88:46873. Neurology. PS and NL: followed III-3 at the Erasme Neurology outpatients clinic. percent confident in Dr. Madsen and the epilepsy team. The brain MRI of IV-6 disclosed a large right-sided frontoparietal cavity (Figure 3B) with communication to the lateral ventricle, isosignal to CFS. However, in rare pathologies with few cases, we may have missed undescribed or subclinical manifestations. 1900 Crown Colony Drive Am J Med Genet. Washington, DC 20036 Your support helps to ensure everyones free access to NORDs rare disease reports. https://www.ncbi.nlm.nih.gov/pubmed/20558831, Alamowitch S, Plaisier E, Favrole P, et al. COL4A1 and COL4A2 are on Chr. Other phenotypes include intracranial aneurysms, porencephaly, infantile hemiparesis, muscle cramps, optic nerve dysgenesis and secondary glaucoma. The degree of mosaicism is highly variable ranging from only a small percent of cells with the mutation to nearly all cells carrying the mutation and depends on the stage during development that the mutation occurred. (2004) 62:16135. (2020). At 2 years old, IV-6 presented obvious left hemiparesis but could move without help. https://www.ncbi.nlm.nih.gov/pubmed/26610912. Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly. Dev Med Child Neurol. *Correspondence: Pasquale Scoppettuolo, Pasquale.scoppettuolo@gmail.com, https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000389182.3, Creative Commons Attribution License (CC BY). . Vahedi K, Alamowitch S. Clinical spectrum of type IV collagen (COL4A1) Neurology. Mosaicism can contribute to both reduced penetrance or variable expressivity but other factors do as well. Clinical case reports suggest a syndrome with characteristic core findings; however, much about the disorder is not fully understood. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. The cells of the retina trigger nerve impulses that run from the optic nerve to the brain to form sight. How can gene variants affect health and development? PS: wrote thi paper and performed the review of the literature under the supervision of GN. Alamowitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agtmael T, Marro B, The first reports of human COL4A1 mutations were in patients with autosomal dominant porencephaly and a more recent study found that COL4A1 mutations were found in ~16% of patients with porencephaly. COL4A1 disorder is probably largely underestimated because of its multisystem and variable phenotype. Arch Ophthalmol. (2011) 42:13. Cerebral small vessel disease with hemorrhage is likely milder continuum from porencephaly and exhibits many of the same symptoms (with the exception of the brain cavities). Type IV collagen networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature). (18) and Staals et al. Until just this year, her 16-year-old daughter Emily, who #1 Ranked Childrens Hospital by U. S. News & World Report. In most people, small vessel disease in the brain does not cause symptoms. The expressivity of the disease is highly variable with high intra- and inter-familial variability (2). doi: 10.1136/jmg.2005.035584, 15. A variety of additional signs and symptoms have been reported in individuals with COL4A1/A2-related disorders including childhood-onset epilepsy, hemolytic anemia (a condition characterized by low levels of circulating red blood cells due to their premature destruction leading to fatigue, weakness, lightheadedness, dizziness, irritability, headaches, and pale skin color), mitral valve prolapse (flaps of the valve located between the upper and lower left heart chambers bulge or collapse during contraction allowing leakage of blood back into the left atrium). The prevalence of HANAC syndrome (hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome) is not available, but at least six affected families have been reported worldwide to date. The variant was confirmed by bidirectional fluorescence DNA sequencing (Sanger method). The disorder causes many symptoms, not the least of which are strokes and epilepsy. Other causes of porencephaly were ruled out [maternal alloimmunization, trauma, peri-natal cerebral ischemia (normal Apgar scores at birth), and negative TORCH complex tests]. Symptoms of the following disorders can be similar to those of COL4A1/A2-related disorders. Thats not to say Zeeva hasnt had to work hard since the surgery. Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity. Jeanne M, Gould DB. Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. Please note that NORD provides this information for the benefit of the rare disease community. COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis. His bedside manner was incredible. 2022 Mar 24;3:100140. doi: 10.1016/j.cccb.2022.100140. Comparison of Clinical, Radiographic, and Histological Features in COL4A1 Syndrome Compared With Other Single Gene Disorders Causing SVD. Progressive cerebral atrophies in three children with COL4A1 mutations. 2021 Sep 10;13:727590. doi: 10.3389/fnagi.2021.727590. People listened to us and to Zeeva in a very different and proactive way. CADASIL is an acronym that stands for: (C)erebral relating to the brain (A)utosomal (D)ominant a form of inheritance in which one copy of an abnormal gene is necessary for the development of a disorder (A)rteriopathy disease of the arteries (blood vessels that carry blood away from the heart) (S)ubcortical relating to specific areas of the brain supplied by deep small arteries (I)nfarcts tissue loss in the brain caused by lack of blood flow to the brain, which occurs when circulation through the small arteries is severely reduced or interrupted (L)eukoencephalopathy lesions in the brain white matter caused by the disease and observed on MRI. Suite 500 What are the different ways a genetic condition can be inherited? Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. (2006) 43:4905. The X and Y chromosomes are called the sex chromosomes and the rest all are called 'autosomes'. and transmitted securely. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The main symptom is single or repeated bleeding inside the skull (intracranial hemorrhaging) that can occur without cause (spontaneously), after trauma, or when taking drugs that slow blood clotting (anticoagulants). In the front of the eye, patients can have abnormally small eyes (microphthalmia), cataracts (cloudy lenses), and anterior segment dysgenesis (Axenfeld-Rieger). Information on current clinical trials is posted on the Internet at https://clinicaltrials.gov/. NCI CPTC Antibody Characterization Program. Eur J Med Genet. Ophthalmological features associated with COL4A1 mutations. U.S. Department of Health and Human Services, Autosomal dominant familial hematuria, retinal arteriolar tortuosity, contractures, Hereditary angiopathy with nephropathy, aneurysm, and muscle cramps syndrome. These types of correlations can be difficult to detect in patients because of the broad genetic variability in humans. Phone: 202-588-5700. In addition to providing strength and support to tissues, basement membranes provide instructional cues to cells. Suite 310 IV-6 was born at 35 weeks after a pregnancy marked by gestational diabetes. 55 Kenosia Avenue What is the prognosis of a genetic condition? Feb;24(1):63-8. doi: 10.1097/WCO.0b013e32834232c6. The pathogenic mechanisms of COL4A1 mutations are not fully elucidated and may vary according to the mutation type, the affected exon (mutations responsible for systemic HANAC syndrome cluster at exon 24 and 25), the position of the mutation within the triple-helix domain, and the mutation location. Image showed ventricular asymmetry and brain MRI confirmed right frontotemporal dilatation (B). Hereditary cerebral small vessel diseases: a review. 2010 Oct;152A(10):2550-5. doi: 10.1002/ajmg.a.33659. official website and that any information you provide is encrypted It looks like nothing was found at this location. View CNBC interview with NORDs Peter Saltonstall and Boston Childrens Dr. Olaf Bodamer emphasizing the importance of investment in rare diseases. We therefore began our analysis of mutant Col4a1 G498V mice by examining the retinal vascular network at three and nine months of age. With input from doctors, researchers, and the US Food & Drug Administration, NORD has created IAMRARE to facilitate patient-powered natural history studies to shape rare disease research and treatments. Thirdly, bioinformatic tools and ACMG (20) classify p.Gly743Val as likely pathogenic due to the combination of the following criteria: (i) the p.Gly743Val variant is located in a mutational hotspot/or critical and well-established functional domain, (ii) the p.Gly743Val variant is absent from controls in the Exome Sequencing Project as reported by GeneDx (30), (iii) the p.Gly743Val variant is a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease, (iv) the variant p.Gly743Val has been previously reported, without phenotypic description in one other report [GeneDx Accession: SCV000531635.4 Submitted: (January 29, 2019)] and from one likely pathogenic [Undiagnosed Diseases Network, NIH Accession: SCV000926981.1 Submitted: (February 21, 2019)], and (v) which multiple lines of computational evidence support a deleterious effect on the gene product (see the Bioinfromatic Interpretation of Results). eCollection 2022. COL4A1 encodes type IV collagen 1 chain, a crucial component of nearly all basement membrane including vasculature, renal glomerule and ocular structures. Vahedi K, Alamowitch S. Clinical spectrum of type IV collagen (COL4A1) However, it is also very likely that basement membrane defects also contribute to abnormal signaling and function of cells that form blood vessels in the brain and elsewhere. Curr Opin Neurol. NORD strives to open new assistance programs as funding allows. Other eye problems experienced by people with COL4A1-related brain small-vessel disease include clouding of the lens of the eye (cataract) and the presence of arteries that twist and turn abnormally within the light-sensitive tissue at the back of the eye (arterial retinal tortuosity).
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