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Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia
Author(s) -
Mahajan Vinit B.,
Olney Ann Haskins,
Garrett Penny,
Chary Ajit,
Dragan Ecaterina,
Lerner Gary,
Murray Jeffrey,
Bassuk Alexander G.
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33621
Subject(s) - endostatin , exon , lymphoblastic leukemia , medicine , microbiology and biotechnology , leukemia , immunology , gene , cancer research , biology , genetics , vegf receptors
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. © 2010 Wiley‐Liss, Inc.