Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.

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.

• Authors: Vinit B Mahajan, Ann Haskins Olney, Penny Garrett, Ajit Chary, Ecaterina Dragan, Gary Lerner, Jeffrey Murray, Alexander G Bassuk
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 152A Issue 11 Pg. 2875-9 (Nov 2010) ISSN: 1552-4833 [Electronic] United States
• PMID: 20799329 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural)
• Copyright: © 2010 Wiley-Liss, Inc.

Chemical References

• Collagen Type XVIII

Topics

• Base Sequence
• Child
• Child, Preschool
• Collagen Type XVIII (genetics)
• DNA Mutational Analysis
• Encephalocele (complications, genetics)
• Eye Abnormalities (genetics)
• Family
• Female
• Humans
• Infant
• Magnetic Resonance Imaging
• Male
• Molecular Sequence Data
• Mutation (genetics)
• Pedigree
• Precursor Cell Lymphoblastic Leukemia-Lymphoma (complications, genetics)
• Retinal Degeneration
• Retinal Detachment (complications, congenital, genetics)