Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele.

Abstract excerpt

The features of a child with Ehlers-Danlos syndrome type IV (EDS IV) resulting from a mutation in one COL3A1 allele were studied. The child was heterozygous for a G- to A-transition at the splice donor site of intron 41. It resulted in the splicing out of the exon 41 encoded sequence from alpha 1(III) mRNA and the deletion of 36 amino acids from glycine775 to lysine810 of the triple helical domain of alpha 1(III)...

Topics

• Adult
• Alleles
• Collagen
• Ehlers-Danlos Syndrome
• Female
• Humans
• Infant, Newborn
• Intestines
• Male
• Mutation
• Phenotype
• RNA Splicing