A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV
- 1 January 1992
- journal article
- Published by Springer Nature in Human Genetics
- Vol. 88 (3) , 325-330
- https://doi.org/10.1007/bf00197268
Abstract
A large family with Ehlers-Danlos syndrome type IV (EDS IV) has previously been described. Unlike most cases of EDS IV, fibroblasts from affected members secreted near normal amounts of type III collagen. We have localised the mutation in this family to the CB5 peptide of type III collagen, by using both protein and cDNA mapping techniques. Sequence analysis of cDNA revealed a 27-bp deletion within exon 37, a deletion that removed nine amino acids and maintained the Gly-X-Y repeat of the collagen helix. Further sequencing of genomic DNA confirmed its location, and amplification of DNA from family members showed that it was absent in unaffected individuals but present in all the affected individuals tested. This deletion is flanked by two short direct repeats of CTCC; it may have arisen by slipped mispairing, and has subsequently been transmitted to all affected family members.Keywords
This publication has 30 references indexed in Scilit:
- Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.Journal of Biological Chemistry, 1991
- G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV.Journal of Biological Chemistry, 1991
- INHERITANCE OF AN RNA SPLICING MUTATION (G+I-IVS20) IN THE TYPE-III PROCOLLAGEN GENE (COL3AI) IN A FAMILY HAVING AORTIC-ANEURYSMS AND EASY BRUISABILITY - PHENOTYPIC OVERLAP BETWEEN FAMILIAL ARTERIAL ANEURYSMS AND EHLERS-DANLOS SYNDROME TYPE-IV1990
- Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IVJournal of Biological Chemistry, 1989
- IDENTIFICATION OF A MUTATION THAT CAUSES EXON SKIPPING DURING COLLAGEN PRE-MESSENGER RNA SPLICING IN AN EHLERS-DANLOS SYNDROME VARIANT1988
- The Structure of the Chicken α2 Collagen GeneaAnnals of the New York Academy of Sciences, 1985
- ALTERED SECRETION OF TYPE-III PROCOLLAGEN IN A FORM OF TYPE-IV EHLERS-DANLOS SYNDROME - BIOCHEMICAL-STUDIES IN CULTURED FIBROBLASTS1981
- The structure and evolution of the human β-globin gene familyCell, 1980
- Patients with Ehlers-Danlos syndrome type IV lack type III collagen.Proceedings of the National Academy of Sciences, 1975
- Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4Nature, 1970