Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen
| Autor: | P H, Byers, M, Duvic, M, Atkinson, M, Robinow, L T, Smith, S M, Krane, M T, Greally, M, Ludman, R, Matalon, S, Pauker, D, Quanbeck, U, Schwarze |
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| Rok vydání: | 1997 |
| Předmět: |
Adult
Male Base Sequence Molecular Sequence Data Infant Newborn Exons Sequence Analysis DNA Polymerase Chain Reaction Pedigree Alternative Splicing Microscopy Electron Child Preschool Mutation Humans Ehlers-Danlos Syndrome Female Amino Acid Sequence Collagen RNA Messenger Child Procollagen DNA Primers |
| Zdroj: | American journal of medical genetics. 72(1) |
| ISSN: | 0148-7299 |
| Popis: | Ehlers-Danlos syndrome (EDS) type VII results from defects in the conversion of type I procollagen to collagen as a consequence of mutations in the substrate that alter the protease cleavage site (EDS type VIIA and VIIB) or in the protease itself (EDS type VIIC). We identified seven additional families in which EDS type VII is either dominantly inherited (one family with EDS type VIIB) or due to new dominant mutations (one family with EDS type VIIA and five families with EDS type VIIB). In six families, the mutations alter the consensus splice junctions, and, in the seventh family, the exon is deleted entirely. The COL1A1 mutation produced the most severe phenotypic effects, whereas those in the COL1A2 gene, regardless of the location or effect, produced congenital hip dislocation and other joint instability that was sometimes very marked. Fractures are seen in some people with EDS type VII, consistent with alterations in mineral deposition on collagen fibrils in bony tissues. These new findings expand the array of mutations known to cause EDS type VII and provide insight into genotype/phenotype relationships in these genes. |
| Databáze: | OpenAIRE |
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