Other disorders. This disorder impairs the activity of smooth muscles throughout the ⦠Here, ⦠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. [5] [6] Mutations in this ⦠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]. 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. Congenital fixed dilated pupils is a rare ⦠ACTA2mutations are associated with high risk of presentation with an acute aortic dissection. Point mutations in the ACTA2 gene encoding smooth muscle (SM) α-actin cause familial thoracic aortic aneurysms and dissections and predispose to premature coronary ⦠When nemaline myopathy is caused by NEB gene mutations, signs and symptoms are typically present at ⦠Marfan syndrome is a genetic, multi-systemic disorder that affects connective tissue. novo mutation, p.r178l, in the gene encoding the smooth muscle gamma-2 actin, ACTG2. structural analysis and functional experiments suggested 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. 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). 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. In humans, ACTA2 is encoded by the ACTA2 gene located on 10q22-q24. 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 ⦠Pathogenic variants of the gene for smooth muscle α-actin (ACTA2), which encodes smooth muscle (SM) α-actin, predispose to heritable thoracic aortic disease. Symptoms for people with ⦠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. Furthermore , aortic tissue from ACTA2 mutation patients showed typical findings of medial degredation of the aorta. 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. However, the life expectancy of MFS has improved over the last 30 ... cm for those with MFS. 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. The anamnesis reveals that the child was from the fifth pregnancy proceeding with toxicosis. 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 ⦠99.89% (99,153/99,266) >99.9999%. ACTA2 (as with all the actins) is extremely highly conserved and found in nearly all mammals. ACTA2 gene related symptoms and diseases. Actg2 transcripts were primar-ily found in murine urinary bladder and intestinal tissues. A mouse model of ACTA2 ⦠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). Themost common liver cancer subtype is hepatocellular carcinoma (HCC),which accounts for >80% of cases of ma⦠Mutations in ACTA2 predispose to thoracic aortic aneurysms and dissection as well as coronary artery and cerebrovascular disease. To date only heterozygous missese mutations have been described in the ACTA2 gene (PMID 26034244,19409525,25207230). At least one mutation in the ACTA2 gene causes multisystemic smooth muscle dysfunction syndrome. The database of ACTA2 mutations was ⦠The mutation detection rate in the FBN1 gene in the nonsyndromic H-TAD patient group (1.9%) is in line with previously published data . In 2010, Milewicz et al [1] first reported a case of MSMDS associated with the p.R179H mutation of the ACTA2 gene. ACTA2 (Actin Alpha 2, Smooth Muscle) is a Protein Coding gene. ACTA2 missense pathogenic variants that ⦠Mutations in ACTA2 are the most common ⦠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. Single nucleotide variants. Insertions, deletions and indels by sequence analysis. Fibroblasts cultured ⦠MTHFR tells our body how to create an enzyme involved in breaking down the amino acid homocysteine. Penetrance is high, and most individuals with a mutation will have some finding related to the disorder. 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 ⦠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 childbirth was third, operative, and in time. 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). 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 ⦠Over 30 ACTA2 gene mutations have been identified as contributors to thoracic aortic aneurysm and dissection (see Table 1). For more information regarding aortic health and dissection, please click HERE. ACTA2 (as with all the actins) is extremely highly conserved and found in nearly all mammals. This database has been compiled to provide up-to-date information about ACTA2 gene mutations. 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. 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. 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]. ACTA2 GEO Profiles, NCBI Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. Guo et al. Studies on the mechanistic basis of these diseases are partly hampered by inability to collect affected tissues from living patients. ACTA2 mutations predispose to development of aortic aneurysms and early onset coronary and cerebrovascular ⦠MTHFR is a gene. 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). Of the 53 women who had a total of 137 pregnancies, eight had aortic dissections in the third ⦠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. Mutations in the gene ACTA2 are a recognized cause of aortic aneurysms with aortic dissection in adulthood. ACTA2 Cancer Genome Anatomy Project, NCI Gene Summary. The hereditary history of the underlying disease was not burdened. When we identify a part of the sequence that varies, we call it a "variant." Carriers of R258C mutation show high penetrance and poor prognosis with a ⦠Summary of gene and mutations by cancer type from ICGC. A certain mutation in the ACTA2 gene has been shown to cause this condition in some individuals. 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 . Of the 53 women who had a total of 137 pregnancies, eight had aortic dissections in the third ⦠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. Sensitivity % (TP/ (TP+FN) Specificity %. ACTA2 Gene Defect Pinpointed In Life-Threatening Hereditary Heart Disease. A certain mutation in the ACTA2 gene has been shown to cause this condition in some individuals. When nemaline myopathy is caused ⦠ACTA2 COSMIC, Sanger Institute Somatic mutation information and related details . Eur J Hum Genet. In trimester I of pregnancy, the mother had an acute respiratory viral infection and also received an⦠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. The tissue-specific α2-smooth muscle actin, encoded by ACTA2, is predominantly expressed in vascular smooth muscle cells. Although aneurysms can occur at various sites of the vasculature, aortic Other disorders. 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). Mutations in the ACTA2 Gene are associated with loss of smooth muscle contractility. Last updated: 10/28/2015 Symptoms Symptoms Listen. In humans, ACTA2 is encoded by the ACTA2 gene located on 10q22-q24. Mutations in ACTA2 predispose to thoracic aortic aneurysms and dissections as well as coronary artery and cerebrovascular disease. Here we examined the risk of aortic ⦠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 ]. Aneurysms are caused by a weakening in the arterial wall resulting in a local distension of the affected vessel. These mutations are displayed at the amino acid level across the full length of the gene by default. ACTA2 Gene Mutation in Women. Mutation-specific time to event analyses for 8 recurrent ACTA2 mutations showed that individuals who harbor mutations that disrupt p.R179 and R258 have significantly increased ⦠All affected individuals carry a p.R179H heterozygous mutation in the ACTA2 gene. ACTA2 Gene Defect Pinpointed In Life-Threatening Hereditary Heart Disease. 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 ⦠The frequency of ACTA2 mutations in familial TAAD suggests that diagnostic sequencing of this gene should be considered in all familial TAAD patients. We all carry two copies of MTHFR. It occurs in 1 out of every 5,000-10,000 individuals and is caused by pathogenic variants in the Fibrillin 1 (FBN1) gene. We describe 3 patients with an R179H mutation, all of whom presented with an aneurysmal patent ductus ⦠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. The gene view histogram is a graphical view of mutations across ACTA2. Last updated: 10/28/2015 Symptoms Symptoms Listen. At least one mutation in the ACTA2 gene causes multisystemic smooth muscle dysfunction syndrome. Here we examined the risk of aortic dissections, stroke and myocardial infarct with pregnancy in women with ACTA2 mutations. 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 ⦠Based on the findings, authors suggest ACTA2 mutations cause a dominant negative pathogenesis. Performance of Blueprint Genetics high-quality, clinical grade NGS sequencing assay for single genes. The cerebral arteriopathy associated with Arg179His mutations in ACTA2 is a prototypical example of nonatherosclerotic cerebral arteriopathies, some of which are Mendelian disorders. We subsequently detected another de novo ACTG2 mutation, p.r178C, in an addi-tional child with MMIHs. This mutation caused systemic smooth muscle dysfunction, leading to ⦠Mutations in ACTA2 predispose to thoracic aortic aneurysms and dissection as well as coronary artery and cerebrovascular disease. 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. The Acta2 â/â knockout mouse is viable with a normal life span, and explanted Acta2 â/â VSMCs are hyperproliferative. Recently, a specific mutation (Arg179His) in this gene has been associated with multisystem smooth muscle dysfunction presenting in childhood. 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 ⦠1 Patients with the ACTA2 mutation have distinctive clinical (multisystem smooth-muscle involvement) and angiographic features 2 âspecifically, a combination of ectasia and ⦠Several studies have addressed these mutations to get an insight into how ACTA2 mutations can cause TAAD. Disease InformationRare Disease Video LibraryPatient and Caregiver Resource CenterInformation Clinical Trials and Research StudiesRare Disease Centers ExcellenceCOVID ResourcesHelp ⦠Smooth muscle cell contraction is an essential function of arteries and relies on the integrity of the actin-myosin apparatus. (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. In class I read a case study about a woman with a mutation in her ACTA2 gene. 2011; 19:520â4. malformations (45). A genetic etiology for cerebrovascular disease is not unique to ACTA2 mutations. Here we examined the risk of aortic dissections, stroke and myocardial infarct with pregnancy in women with ACTA2 mutations. A research team led by scientists at The University of Texas Medical School at Houston has ⦠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 ⦠ACTA2 encodes smooth muscle specific α-actin, a critical component or the contractile complex of vascular smooth muscle. [PMC free article: PMC3083620] [PubMed: 21248741] 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. The majority of people with HCM will have mild symptoms and a normal life expectancy. We add to the ophthalmologic involvement with 3 more patients. Gene function. 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). 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.. [1] [2] [3] As is true for any gene, the DNA code of the MTHFR gene can vary. 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