Related Experiment Videos
Type III collagen deficiency in a family with intracranial aneurysms
J S van den Berg1, M Limburg, G Pals
1Department of Neurology, Isala Kliniek, Locatie Sophia, PO Box 10400, NL-8000 GK Zwolle, The Netherlands.
Cerebrovascular Diseases (Basel, Switzerland)
|February 27, 2001
Abstract:
We present a family with 2 female cousins with intracranial aneurysms and type III collagen deficiency. DNA analysis revealed no mutations in the COL3A1 gene, encoding type III collagen, and including the segment encoding the C-propeptide of type III collagen. The 2 patients with low type III collagen production and intracranial aneurysms had inherited different type III collagen alleles. The type III collagen deficiency in this family may results from defects during posttranslational modification or from an altered collagen metabolism.