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Collagen XVIII Mutation in Knobloch Syndrome With Acute Lymphoblastic Leukemia AMERICAN JOURNAL OF MEDICAL GENETICS PART A Mahajan, V. B., Olney, A. H., Garrett, P., Chary, A., Dragan, E., Lerner, G., Murray, J., Bassuk, A. G. 2010; 152A (11): 2875-2879

Abstract

Knobloch syndrome (KNO) is caused by mutations in the collagen XVIII gene (COL18A1) and patients develop encephalocele and vitreoretinal degeneration. Here, we report an El Salvadorian family where two sisters showed features of KNO. One of the siblings also developed acute lymphoblastic leukemia. DNA sequencing of COL18A1 revealed a homozygous, 2-bp deletion (c3514-3515delCT) in exon 41, which leads to abnormal collagen XVIII and deficiency of its proteolytic cleavage product endostatin. KNO patients with mutations in COL18A1 may be at risk for endostatin-related conditions including malignancy.

View details for DOI 10.1002/ajmg.a.33621

View details for Web of Science ID 000284005700034

View details for PubMedID 20799329

View details for PubMedCentralID PMC2965270