Type III collagen deficiency in a family with intracranial aneurysms.
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.
van den Berg
J S
JS
Department of Neurology, Isala Kliniek, Locatie Sophia, PO Box 10400, NL-8000 GK Zwolle, The Netherlands.
Limburg
M
M
Pals
G
G
Arwert
F
F
Westerveld
A
A
D000328:Adult; D003094:Collagen / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000032:analysis; D005260:Female; D006801:Humans; D002532:Intracranial Aneurysm / Q000209:etiology* / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D013345:Subarachnoid Hemorrhage
D003094:Collagen; D004247:DNA