Type III collagen deficiency in a family with intracranial aneurysms

We present a family with 2 female cousins with intracranial aneurysms and t ype III collagen deficiency. DNA analysis revealed no mutations in the COL3 A1 gene, encoding type III collagen, and including the segment encoding the C-propeptide of type III collagen. The 2 patients with low type III collag en production and intracranial aneurysms had inherited different type III c ollagen alleles. The type III collagen deficiency in this family may result s from defects during posttranslational modification or from an altered col lagen metabolism. Copyright (C) 2001 S. Karger AG, Basel.