We have used a high frequency site polymorphism within the human pro-alpha 1(II) collagen gene (COL2A1) in order to examine the segregation of this gene within a large pedigree with type II Ehlers-Danlos syndrome (EDS).
The clinical features and progress of a child with the type VII form of Ehlers-Danlos syndrome due to a deletion in the pro alpha 1(I) of type I procollagen were studied.
Striking similarities with established genetic disorders of collagen (like the osteogenesis imperfecta group and the Ehlers-Danlos syndrome) suggest, however, that the OPS could be a primary collagen disorder.
The data suggest that EDS type IV is often caused by heterozygosity for mutations at the COL3A1 locus, which affect the structure of type III procollagen.
Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not others.
The defect in type III collagen in some patients with early periodontitis and the considerable overlap of the clinical manifestations of EDS types IV and VIII point out the need for further studies of collagen formation and maturation in any patient who has early periodontitis and who has been classified with EDS type IV or VIII.
The proband is the fourth reported proband with Ehlers-Danlos syndrome VII with a single-base mutation that causes skipping of exon 6 in the splicing of RNA from either the COL1A1 gene or COL1A2 gene.
We have used a number of restriction site dimorphisms, tightly linked to the structural genes of type I collagen (COL1A1 COL1A2) and type III collagen (COL3A1), to investigate the segregation of corresponding alleles in three pedigrees in which type II EDS was clearly inherited as a dominant trait.
We have used a number of restriction site dimorphisms, tightly linked to the structural genes of type I collagen (COL1A1 COL1A2) and type III collagen (COL3A1), to investigate the segregation of corresponding alleles in three pedigrees in which type II EDS was clearly inherited as a dominant trait.
The proband is the fourth reported proband with Ehlers-Danlos syndrome VII with a single-base mutation that causes skipping of exon 6 in the splicing of RNA from either the COL1A1 gene or COL1A2 gene.
We have used a number of restriction site dimorphisms, tightly linked to the structural genes of type I collagen (COL1A1 COL1A2) and type III collagen (COL3A1), to investigate the segregation of corresponding alleles in three pedigrees in which type II EDS was clearly inherited as a dominant trait.
While in control fibroblasts about 70% of FN mRNA isoforms contain the EDA region (EDA+ FN mRNAs), in EDS fibroblasts this fraction is reduced up to about 30%.