Smooth muscle cell contraction is an essential function of arteries and relies on the integrity of the actin-myosin apparatus. Previous epidemiological evidenceindicates increasing global rates of incidence and mortality ofhepatic cancer, with particularly high incidence rates in EastAsian countries including China (2,3). The gene view histogram is a graphical view of mutations across ACTA2. ACTA2 Arg179 mutations impair the function of smooth muscle throughout various organs and systems of the body beyond the aorta, specifically affecting involuntary muscles found in the walls of hollow organs such as blood vessels, bladder, esophagus, stomach, and bronchioles. However, the life expectancy of MFS has improved over the last 30 ... cm for those with MFS. smooth muscle Last updated: 10/28/2015 Symptoms Symptoms Listen. Based on the findings, authors suggest ACTA2 mutations cause a dominant negative pathogenesis. The ACTA2 variant p.Arg149Cys (R149C) is the most common alteration; however, only 60% of carriers have a dissection or undergo repair of an aneurysm by 70 years of age. In humans, ACTA2 is encoded by the ACTA2 gene located on 10q22-q24. Vascular disease-causing mutation R258C Guo et al. The cerebral arteriopathy associated with Arg179His mutations in ACTA2 is a prototypical example of nonatherosclerotic cerebral arteriopathies, some of which are Mendelian disorders. ACTA2 2011; 19:520â4. Hereditary Influence in Thoracic Aortic Aneurysm and ... ACTA2 Gene - Somatic Mutations in Cancer Genes Predisposing to Thoracic Aortic Aneurysms and ... LoeysâDietz syndrome (literature review and case ... In humans, ACTA2 is encoded by the ACTA2 gene located on 10q22-q24. Congenital fixed dilated pupils is a rare ⦠ACTA2 Gene Mutation in Women. Request PDF | On Dec 8, 2021, Yu-Xing Liu and others published Novel heterozygous mutation of MCTP2 gene in a patient with coarctation of the aorta | Find, read and cite all the research you ⦠The anamnesis reveals that the child was from the fifth pregnancy proceeding with toxicosis. A pathogenic mutation was identified in the MYH7 gene. [5] [6] Mutations in this ⦠Carriers of R258C mutation show high penetrance and poor prognosis with a ⦠All the information presented here about the ACTA2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare ⦠The Acta2 â/â knockout mouse is viable with a normal life span, and explanted Acta2 â/â VSMCs are hyperproliferative. Other disorders. When we identify a part of the sequence that varies, we call it a "variant." Hoffjan S, Waldmuller S, Blankenfeldt W, Kotting J, Gehle P, Binner P, Epplen JT, Scheffold T. Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. We investigated the effect of the R258C mutation first because of its prevalence in patients (6), its relatively poor prognosis (median life expectancy of â¼35 y of age), and high penetrance (5), and because it causes TAAD as well as moyamoya-like disease, an ⦠A mouse model of ACTA2 ⦠Of the 53 women who had a total of 137 pregnancies, eight had aortic dissections in the third ⦠At least one mutation in the ACTA2 gene causes multisystemic smooth muscle dysfunction syndrome. Mutations in the ACTA2 Gene are associated with loss of smooth muscle contractility. Our results identified three mutations of ACTA2, two novel [p.G152_T205del (c.616+1G>T), p.R212Q] and one reported (p.R149C), in the 14 patients with familial TAAD, and ⦠Studies on the mechanistic basis of these diseases are partly hampered by inability to collect affected tissues from living patients. Recently, a specific mutation (Arg179His) in this gene has been associated with multisystem smooth muscle dysfunction presenting in childhood. We add to the ophthalmologic involvement with 3 more patients. At least one mutation in the ACTA2 gene causes multisystemic smooth muscle dysfunction syndrome. Mutations in the ACTA2 gene usually cause problems with vascular smooth muscle function that causes thoracic aortic aneurysms, coronary artery disease, Multisystem Smooth Muscle Dysfunction Syndrome and Moyamoya Disease. In trimester I of pregnancy, the mother had an acute respiratory viral infection and also received an⦠Summary of gene and mutations by cancer type from ICGC. The majority of people with HCM will have mild symptoms and a normal life expectancy. ACTA2, ACTC1, APOB, COL3A1, DSC2, DSG2, DSP, FBN1, GLA, KCNH2, KCNQ1, LDLR, LMNA, ... Mutations in the MYH7 gene have been associated with the following disorders. Gene function. ACTA2 gene related symptoms and diseases. The mutation detection rate in ACTA2 (2.6%) contrasts with what has been reported in the first studies identifying ACTA2 mutations in up to 16% of nonsyndromic H-TAD families [18-20]. Point mutations in the ACTA2 gene encoding smooth muscle (SM) α-actin cause familial thoracic aortic aneurysms and dissections and predispose to premature coronary artery disease, stroke, and moyamoya disease. The ACTA2 gene encodes the vascular smooth muscle cell ( SMC )-specific isoform of alpha-actin is a major component of the contractile apparatus in SMC s of the arterial system and is important for cell movement and muscle contraction ( PMID: 19409525). The hereditary history of the underlying disease was not burdened. A certain mutation in the ACTA2 gene has been shown to cause this condition in some individuals. A research team led by scientists at The University of Texas Medical School at Houston has ⦠Interestingly, the arginine 258 ACTA2 mutation is seen in families with TAAD and premature stroke, whereas other mutations predisposed to TAAD and CAD (alterations in arginine 149 or arginine 118). Eur J Hum Genet. malformations (45). [PMC free article: PMC3083620] [PubMed: 21248741] Hoffjan S, Waldmuller S, Blankenfeldt W, Kotting J, Gehle P, Binner P, Epplen JT, Scheffold T. Three novel mutations in the ACTA2 gene in German patients with thoracic aortic ⦠Aneurysms are caused by a weakening in the arterial wall resulting in a local distension of the affected vessel. Mutations in the gene ACTA2 are a recognized cause of aortic aneurysms with aortic dissection in adulthood. ACTA2 Gene Defect Pinpointed In Life-Threatening Hereditary Heart Disease. In class I read a case study about a woman with a mutation in her ACTA2 gene. Point mutations in vascular smooth muscle α-actin (SM α-actin), encoded by the gene ACTA2, are the most prevalent cause of famil-ial thoracic aortic aneurysms and dissections (TAAD). ACTA2 (Actin Alpha 2, Smooth Muscle) is a Protein Coding gene. ACTA2 (as with all the actins) is extremely highly conserved and found in nearly all mammals. Mutations in the ACTA2 Gene are associated with loss of smooth muscle contractility. Smooth muscle cells form part of the wall of most vessels in the body, the lungs, the gastrointestinal system, the bladder and the eye among other organs. Mutations in ACTA2 predispose to thoracic aortic aneurysms and dissection as well as coronary artery and cerebrovascular disease. Insertions, deletions and indels by sequence analysis. novo mutation, p.r178l, in the gene encoding the smooth muscle gamma-2 actin, ACTG2. To date only heterozygous missese mutations have been described in the ACTA2 gene (PMID 26034244,19409525,25207230). Mutations in ACTA2 are the most common ⦠A genetic etiology for cerebrovascular disease is not unique to ACTA2 mutations. Smooth muscle cells form part of the wall of most vessels in the body, the lungs, the gastrointestinal system, the bladder and the eye among other organs. 99.89% (99,153/99,266) >99.9999%. Disease InformationRare Disease Video LibraryPatient and Caregiver Resource CenterInformation Clinical Trials and Research StudiesRare Disease Centers ExcellenceCOVID ResourcesHelp ⦠In 2010, Milewicz et al [1] first reported a case of MSMDS associated with the p.R179H mutation of the ACTA2 gene. Performance of Blueprint Genetics high-quality, clinical grade NGS sequencing assay for single genes. Penetrance is high, and most individuals with a mutation will have some finding related to the disorder. Mutations in ACTA2 predispose to thoracic aortic aneurysms and dissection as well as coronary artery and cerebrovascular disease. MTHFR is a gene. The mutation detection rate in the FBN1 gene in the nonsyndromic H-TAD patient group (1.9%) is in line with previously published data . Of the 53 women who had a total of 137 pregnancies, eight had aortic dissections in the third ⦠The tissue-specific α2-smooth muscle actin, encoded by ACTA2, is predominantly expressed in vascular smooth muscle cells. ACTA2 missense pathogenic variants that ⦠ACTA2mutations are associated with high risk of presentation with an acute aortic dissection. Sensitivity % (TP/ (TP+FN) Specificity %. Point mutations in the ACTA2 gene encoding smooth muscle (SM) α-actin cause familial thoracic aortic aneurysms and dissections and predispose to premature coronary ⦠Mutations in the ACTA2 gene trigger inappropriate proliferation of vascular smooth muscle cells leading to occlusive diseases such as coronary artery disease, stroke, Moyamoya disease and livedo reticularis. Additionally, iris floccule has been reported in ACTA2 mutation carriers [ 18, 19, 25 ]. This mutation caused systemic smooth muscle dysfunction, leading to ⦠[1] [2] [3] As is true for any gene, the DNA code of the MTHFR gene can vary. Single nucleotide variants. The lifetime risk for an aortic event is only 76%, suggesting that additional environmental or genetic factors play a role in expression of aortic disease in individuals with ACTA2mutations. Furthermore , aortic tissue from ACTA2 mutation patients showed typical findings of medial degredation of the aorta. ACTA2 COSMIC, Sanger Institute Somatic mutation information and related details . Restrict the view to a region of the gene by dragging across the histogram to highlight the region of interest, or by using the sliders in the filters panel to the left. All affected individuals carry a p.R179H heterozygous mutation in the ACTA2 gene. EhlersâDanlos syndrome (mutations in COL3A1 gene [MIM 130050] in EDS type IV), neurofibromatosis 1 (NF1 gene (MIM 162200)) and cerebral amyloid angiopathy (APP gene [MIM 605714]) are the most well-known vasculopathies caused by single gene mutations. Marfan syndrome is a clinical diagnosis conferred to patients who meet the revised international criteria, with the majority having mutations in FBN1,which codes for a glycoprotein called fibrillin-1 . Other disorders. It aims at making the information readily accessible to anyone interested in the genetic variations of the ACTA2 gene, and to provide an easy way for those who investigate these variations to report their most recent findings.. Liver cancer, also known as hepatic cancer, is asevere human malignant tumor; it is considered one of the majorcauses of cancer-associated mortality worldwide (1). Here we examined the risk of aortic dissections, stroke and myocardial infarct with pregnancy in women with ACTA2 mutations. Diseases associated with ACTA2 include Multisystemic Smooth Muscle Dysfunction Syndrome and Aortic Aneurysm, Familial Thoracic 6.Among its related pathways are Striated Muscle Contraction and Integrin Pathway.Gene Ontology (GO) annotations related to this gene include protein kinase binding. Themost common liver cancer subtype is hepatocellular carcinoma (HCC),which accounts for >80% of cases of ma⦠This disorder impairs the activity of smooth muscles throughout the body and leads to widespread problems including blood vessel abnormalities, decreased response of the pupils to light, a weak (hypotonic) bladder, and impairment of the muscle contractions that ⦠Here we examined the risk of aortic ⦠Ueyama et al. (1984) isolated and characterized the ACTA2 gene, encoding smooth muscle aortic actin. The gene has a transition point mutation in position 309, substituting thymine for cytosine. Ueyama et al. (1984) found that the ACTA2 gene contains at least 9 exons. Here, ⦠The childbirth was third, operative, and in time. Several studies have addressed these mutations to get an insight into how ACTA2 mutations can cause TAAD. In order to further explore the role of ACTA2 variations in the pathogenesis of TAAD, we sequenced the coding regions of this gene in 40 unrelated German patients with TAAD (with ⦠Patients with mutations in ACTA2 are at risk for TAD, along with early-onset CAD and ischemic strokes (defined as an age of onset less than 55 years in men and less than 60 years in women, OMIM 611788).Specific ACTA2 mutations predispose to either early-onset CAD, or moyamoya-like cerebrovascular disease (OMIM 614042) [71]. Fibroblasts cultured ⦠A certain mutation in the ACTA2 gene has been shown to cause this condition in some individuals. NEB gene mutations account for about 50 percent of all cases of nemaline myopathy and ACTA1 gene mutations account for 15 to 25 percent of all cases. Similarly, the management of patients with FTAAD will depend on the presence or ⦠It occurs in 1 out of every 5,000-10,000 individuals and is caused by pathogenic variants in the Fibrillin 1 (FBN1) gene. Our results identified three mutations of ACTA2, two novel [p.G152_T205del (c.616+1G>T), p.R212Q] and one reported (p.R149C), in the 14 patients with familial TAAD, and a novel mutation (p.Y145C) of ACTA2 in the 26 sporadic and youngâonset TAAD patients, each of which are considered to be causative for TAAD. Although aneurysms can occur at various sites of the vasculature, aortic These mutations are displayed at the amino acid level across the full length of the gene by default. This database has been compiled to provide up-to-date information about ACTA2 gene mutations. ACTA2 (as with all the actins) is extremely highly conserved and found in nearly all mammals. ACTA2 encodes smooth muscle specific α-actin, a critical component or the contractile complex of vascular smooth muscle. We subsequently detected another de novo ACTG2 mutation, p.r178C, in an addi-tional child with MMIHs. This disorder impairs the activity of smooth muscles throughout the ⦠ACTA2 Gene Defect Pinpointed In Life-Threatening Hereditary Heart Disease. structural analysis and functional experiments suggested The first, R179 mutations in the ACTA2 gene, correlate with a radiographically distinct subtype of moyamoya disease, identified in a very small cohort of patients related to a larger group of ACTA2 mutations that cause cardiac and aortic disorders 20). 1 Patients with the ACTA2 mutation have distinctive clinical (multisystem smooth-muscle involvement) and angiographic features 2 âspecifically, a combination of ectasia and ⦠Actg2 transcripts were primar-ily found in murine urinary bladder and intestinal tissues. The region 10q contains the ACTA2 gene, which encodes for smooth muscle alpha-actin (ACTA2), and mutation in this gene can result in thoracic aneurysm and, in some instances, BAV (46). We all carry two copies of MTHFR. The database of ACTA2 mutations was ⦠Symptoms for people with ⦠ACTA2 Cancer Genome Anatomy Project, NCI Gene Summary. MTHFR tells our body how to create an enzyme involved in breaking down the amino acid homocysteine. Our follow-up case involved a 7-year-old boy with malformations of the upper and lower extremities and pathology of the cardiovascular and nervous systems. ACTA2 mutations predispose to development of aortic aneurysms and early onset coronary and cerebrovascular ⦠When nemaline myopathy is caused by NEB gene mutations, signs and symptoms are typically present at ⦠ACTA2 GEO Profiles, NCBI Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. The frequency of ACTA2 mutations in familial TAAD suggests that diagnostic sequencing of this gene should be considered in all familial TAAD patients. Pathogenic variants of the gene for smooth muscle α-actin (ACTA2), which encodes smooth muscle (SM) α-actin, predispose to heritable thoracic aortic disease. (2009) studied 20 families with 127 members harboring heterozygous ACTA2 mutations and phenotyped them for premature vascular disease, defined as an age of onset less than 55 years in men and less than 60 years in women. When nemaline myopathy is caused ⦠Here we examined the risk of aortic dissections, stroke and myocardial infarct with pregnancy in women with ACTA2 mutations. Last updated: 10/28/2015 Symptoms Symptoms Listen. Marfan syndrome is a genetic, multi-systemic disorder that affects connective tissue. Mutations in ACTA2 predispose to thoracic aortic aneurysms and dissections as well as coronary artery and cerebrovascular disease. 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