Gene: COL7A1

Alternate names for this Gene: EBD1|EBDCT|EBR1|NDNC8

Gene Summary: This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.31

Description of this Gene: collagen type VII alpha 1 chain

Type of Gene: protein-coding

rs1057518706 in COL7A1 gene and Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) PMID 16965329 2006 Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.

PMID 9215684 1997 Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.

PMID 7861014 1995 A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa.

PMID 9668111 1998 Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.

PMID 9856843 1998 Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.

PMID 10233777 1999 Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1).

PMID 20598510 2010 Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations.

PMID 9740253 1998 Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.

PMID 10836608 2000 A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa.

PMID 8170945 1994 Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen.

PMID 10232408 1999 Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study.

PMID 11142768 2000 Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa.

PMID 10232407 1999 Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa.

PMID 10232406 1999 "Diagnostic dilemma of ""sporadic"" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?"

PMID 10084325 1999 Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.

PMID 2653224 1989 Epidermolysis bullosa simplex superficialis. A new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome.

PMID 11874498 2002 EB simplex superficialis resulting from a mutation in the type VII collagen gene.

rs121912832 in COL7A1 gene and Dysmorphic features PMID 26064063 2015 Dystrophic epidermolysis bullosa: a review.

PMID 3771648 1986 Type VII collagen is a major structural component of anchoring fibrils.

PMID 20507384 2010 Overview of epidermolysis bullosa.

PMID 19026465 2009 Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006.

rs121912856 in COL7A1 gene and Epidermolysis Bullosa Dystrophica PMID 20598510 2010 Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations.

PMID 8755915 1996 Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.

PMID 15888141 2005 High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa.

PMID 22266148 2012 The panel of recessively inherited DEB causing recurrent mutations comprise of five variants: c.425A>G, c.682+1G>A, p.R2069C, p.W796X and, unreported before, c.7154delC, which accounts for about 59% of all mutated alleles in this group.

PMID 24032424 2013 Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial.

PMID 21471992 2011 HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa.

PMID 9242516 1997 Haplotype analysis revealed that the mutations existed on similar allelic backgrounds in different patients, consistent with propagation of common British ancestral haplotypes, although R578X and 7786delG also have been described in DEB patients from other ethnic backgrounds.

PMID 20357813 2010 Revertant mosaicism in recessive dystrophic epidermolysis bullosa.

PMID 7833933 1994 A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa.

PMID 26763448 2016 Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB.

PMID 9326325 1997 Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.

PMID 26102279 2015 Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family.

PMID 10504458 1999 Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.

PMID 24947307 2015 Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.

PMID 16971478 2007 Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.

PMID 16484981 2006 Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.

PMID 25155989 2014 Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa.

PMID 19439919 2009 Cetuximab therapy of metastasizing cutaneous squamous cell carcinoma in a patient with severe recessive dystrophic epidermolysis bullosa.

PMID 17916216 2007 COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa.

PMID 15888141 2005 High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa.

PMID 15816848 2005 Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense.

PMID 12653705 2003 Dystrophic epidermolysis bullosa complicated by cutaneous squamous cell carcinoma and pulmonary and renal amyloidosis.

PMID 27544590 2016 Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases.

PMID 12813757 2003 Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.

rs121912837 in COL7A1 gene and Epidermolysis Bullosa Pruriginosa PMID 10383749 1999 Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.

PMID 11142768 2000 Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa.

rs121912831 in COL7A1 gene and Epidermolysis bullosa, pretibial PMID 8541842 1995 Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.

rs121912828 in COL7A1 gene and Hallopeau-Siemens Disease PMID 10620140 2000 Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa.

PMID 12787275 2003 Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.

PMID 8592061 1996 Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity.

PMID 20598510 2010 Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations.

PMID 11167698 2001 Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.

PMID 8618018 1996 Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa.

PMID 8513326 1993 A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.

PMID 10084325 1999 Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.

PMID 9444387 1997 Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa.

PMID 9740253 1998 Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.

PMID 9326325 1997 Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.

PMID 9215684 1997 Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.

PMID 8757758 1996 Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.

PMID 9804332 1998 Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.

PMID 9668111 1998 Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.

PMID 15888141 2005 High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa.

PMID 22266148 2012 Novel and recurrent COL7A1 mutation in a Polish population.

PMID 12485454 2002 In RDEB patients, six recurrent mutations were identified: 7344G-->A, 425A-->G, 8441-14del21, 4783-1G-->A, 497insA, and G1664A, the last three being found only in Italian patients.

PMID 18558993 2008 Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.

PMID 10944088 2000 The molecular basis of dystrophic epidermolysis bullosa in Mexico.

PMID 16971478 2007 Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.

PMID 8900535 1996 Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1).

PMID 17495952 2007 Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression.

rs121912840 in COL7A1 gene and TOENAIL DYSTROPHY, ISOLATED PMID 11843659 2002 Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.

rs121912834 in COL7A1 gene and Transient bullous dermolysis of the newborn PMID 9856844 1998 Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.