Lsdbs and how they have evolved dalgleish 2016 human. Col7a1 gene variants database graphic view of mutation. A nonsense mutation in the col7a1 gene causes epidermolysis bullosa in vorderwald cattle. Wertheimtysarowska k1, sobczynskatomaszewska a, kowalewski c, skronski m,swieckowski g, kutkowskakazmierczak a, wozniak k, bal j. Col1a1 homepage osteogenesis imperfecta variant database.
The information provided may be of special value for eb specialists if clinical consequences of a newly identified mutation need to be interpreted. Dystrophic epidermolysis bullosa deb is a family of inherited mechanobullous disorders caused by mutations in the human type vii collagen gene transduction. This is a work in progress and new updates and functionalities will be implemented on a regular basis. Once logged in, localize new variant in the gene by clicking on the appropriate exonintron. The col7a1 gene provides instructions for making proteins that are used to assemble type vii collagen. The software was designed to collect and present data in a simple and intuitive mode from which suitable and appropriate statistical analyses can be performed.
Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sublamina densa blistering, erosions, and chronic ulcers. We now have cloned the entire human type xvii collagen gene col17a1 and have. Mutation search we have prepared a basic and advanced mutation search form for users. Col22a1 gene human genes gene database gene search. Disease description a bullous skin disorder with variable sized clefts just beneath the level of the stratum corneum. Col7a1 gene cdna orf clone, homo sapienshuman genscript.
The acmg guidelines on the classification of variants specify that the functional impact of mutations must have been assessed to classify the variant as pathogenic. The disease is caused by mutations affecting the gene represented in this entry. The human gene col7a1, with a transcript size of 8. Mutation analysis and characterization of col7a1 mutations. In summary, screening the col7a1 gene is useful in understanding the different clinical variants of deb and essential to prenatal diagnosis. A database of osteogenesis imperfecta and ehlers danlos. Col7a1 gene mutations database addresses professionals and nonprofessionals who are dealing with ebd disease on a clinical, diagnostic, research level. In particular, type vii collagen plays an essential role in strengthening and stabilizing the skin. Epidermolysis bullosa, dystrophic col7a1 genedx genedx. Numerous studies underline that both forms are caused by mutations of the col7a1 gene. All transcript variants in gene col7a1 global variome. The following col7a1 gene cdna orf clone sequences were retrieved from the ncbi reference sequence database refseq. The deb register is a joint initiative of the international dystrophic epidermolysis bullosa patient registry and the col7a1 gene variant database aimed at creating one.
Previous findings have suggested that type xvii collagen is the candidate gene for mutations in this disease. The first major practical improvement upon the provision of human hemoglobin variant data in purely printed form was the reproduction of these same data in the. Provides a registry for clinicians, genetic counselors, and researchers about dystrophic epidermolysis bullosa deb patients and their associated col7a1. Col7a1 collagen type vii alpha 1 chain homo sapiens human. Through the clinvar and ncbi database of human genome variants and phenotypes, deb register, and analyzing premature col7a1 termination variants we built a model to predict the pathogenicity of. Deb is caused by mutations in the col7a1 gene encoding collagen vii in the skin. Blueprint genetics col7a1 single gene test col7a1 single gene test. Inheritance refers to inheritance patterns such as autosomal dominant ad, autosomal recessive ar, mitochondrial mi, xlinked xl, xlinked. Col22a1 collagen type xxii alpha 1 chain is a protein coding gene.
Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone. Col3a1 homepage ehlers danlos syndrome variant database. Genetic testing for congenital epidermolysis bullosa. Such variants occur in the bmp1, col1a1, col1a2, creb3l1, crtap, fkbp10, ifitm5. A gene gunmediated nonviral rna transsplicing strategy. Cloning of the human type xvii collagen gene col17a1. The col7a1 gene provides instructions for making a protein called pro. Genedx 207 perry parkway gaithersburg, md 20877 toll free. The type vii collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous. Col7a1, encoding type vii collagen, has been identified as the candidate. Through our online ordering and statement reporting system, nucleus, ordering providers have access to the details of the analysis, including patient specific sequencing metrics, a gene level coverage. This gene encodes the alpha chain of type vii collagen. Col7a1 mutation database provides a registry for clinicians, genetic counselors, and researchers about dystrophic epidermolysis bullosa deb patients and their associated col7a1 mutations.
Clinvar and hgmd into our clinical interpretation software to make the process effective and efficient. Both original and extracted data from published papers are accumulated in this database. Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone, tendons, and ligaments, throughout the body. The international dystrophic epidermolysis bullosa patient. Search aliases for col7a1 gene in pubmed and other databases. Dystrophic epidermolysis bullosa is a heritable skin disorder with dominant and recessive genetic patterns. Diseases associated with col17a1 include epithelial recurrent erosion dystrophy and epidermolysis bullosa, junctional, non. The deb register is a joint initiative of the international dystrophic epidermolysis bullosa patient registry and the col7a1 gene variant database aimed at creating one strong international register for all deb patients and their col7a1 mutations. About dystrophic epidermolysis bullosa and the col7a1 gene. Twenty candidate causal variants were splice site mutations or resided in protein coding regions of the genome see additional file 1, among these, a nonsense mutation in the col7a1 gene. Arg1588x in the col7a1 gene that segregates with the disease. Col17a1 collagen type xvii alpha 1 chain is a protein coding gene. A nonsense mutation in the col7a1 gene causes epidermolysis. Col17a1 gene human genes gene database gene search.
Unique variants in gene col7a1 global variome shared lovd. Col7a1 gene variants database the aim of this col7a1 gene mutations database is to collect mutations related to epidermolysis bullosa dystrophica ebd and their clinical information in order to deepen our knowledge of ebd. Col7a1 collagen alpha1vii chain precursor homo sapiens. The aim of this col7a1 gene mutations database is to collect mutations related to epidermolysis. Col7a1 gene genecards co7a1 protein co7a1 antibody. Dystrophic epidermolysis bullosa deb, a heterogeneous hereditary skin disorder characterized by traumainduced blistering and scarring, affects thousands of families worldwide. Collagens are a family of proteins that strengthen and support connective tissues. Complete information for col7a1 gene protein coding, collagen type vii alpha 1. Dystrophic epidermolysis bullosa deb is a genetic disease caused by mutations in the col7a1 gene that is inherited. Identification of variants in genes associated with single. Notes, the establishment of this gene variant database lsdb was supported by. Previously unreported col7a1 mutation in a somali patient with. Genetic variants listed may or may not have a causal association with disease phenotypes, irrespective of stated classifications or other information presented in the database. Using a genetic modelling approach, we use whole exome and genome sequencing data to estimate the allele frequency of recessive pathogenic variants in the col7a1 gene.
The establishment of this gene variant database lsdb was supported by the european communitys seventh framework programme. The establishment of this gene variant database lsdb was supported by the european communitys seventh framework programme fp7200720 under grant agreement n. Full text from clinical phenotype to genotypic modelling. The number of times this variant has been reported in the database. Col7a1 collagen type vii alpha 1 chain gene gtr ncbi. Therefore, efficient col7a1 mutation detection is urgently needed for precise diagnosis, prognostication, genetic counseling and reliable prenatal diagnosis, and, importantly, for identification of suitable. Col5a1 homepage ehlers danlos syndrome variant database. Custom cloning services gene synthesis, subcloning, mutagenesis, variant library. These sequences represent the protein coding region of the col7a1. Highly efficient and safe approaches for precise correction of pathogenic mutations are required to realize the full potential of geneediting protocols for clinical practice. Wertheimtysarowska k1, sobczynskatomaszewska a, kowalewski c, skronski m, swieckowski g, kutkowskakazmierczak a, wozniak k, bal j. A novel col7a1 gene mutation in an iranian individual. Greenspan 1993 described the cterminal half of type vii collagen and the intronexon organization of the corresponding region of the col7a1 gene. For missense variants, in silico variant prediction tools such as sift, polyphen, mutationtaster are used to assist with variant classification.1390 1474 1511 1420 1334 378 236 1135 1255 704 281 199 372 1406 235 613 683 1338 1179 1576 1149 1139 118 416 791 1461 870 1311 46 702 608 837 255 883 1002 638 1436