A novel point mutation in type III collagen gene resulting in exon 24 skipping in a case of vascular type Ehlers-Danlos syndrome.

A novel point mutation in a patient with vascular type Ehlers-Danlos syndrome is herein reported. The patient experienced pneumothorax and multiple arterial troubles during the past 10 years. The patient's hand skin was atrophic, and a paper-like atrophic scar was seen. The collagen microfibrils from the patient's skin demonstrated irregular contour, electron density variegation, and smaller, irregular fibril diameters. The patient's fibroblasts produced apparently much less type III collagen comparing with control. A skipping of exon 24-originated sequences of the patient's mRNA of type III collagen was proved. A single base pair mutation of thymine to guanine at the second position of the intron 24 of COL3A1 was finally found. This is the first report of the mutation of the second position of exon 24 of COL3A1.