Collagen XVIII Mutation in Knobloch Syndrome With Acute Lymphoblastic Leukemia

被引：29

作者：

Mahajan, Vinit B. ^{[3
,4
]}

Olney, Ann Haskins ^{[5
]}

Garrett, Penny ^{[6
]}

Chary, Ajit ^{[7
]}

Dragan, Ecaterina

Lerner, Gary ^{[2
]}

Murray, Jeffrey

Bassuk, Alexander G. ^{[1
]}

机构：

[1] Univ Iowa, Carver Coll Med, Dept Pediat, Iowa City, IA 52242 USA

[2] Childrens Hosp, Omaha, NE USA

[3] Univ Iowa Hosp & Clin, Dept Ophthalmol & Visual Sci, Iowa City, IA 52242 USA

[4] Univ Iowa Hosp & Clin, Omics Lab, Iowa City, IA 52242 USA

[5] Univ Nebraska Med Ctr, Munroe Meyer Inst, Omaha, NE USA

[6] Iowa Educ Agcy, Iowa City, IA USA

[7] Northwestern Univ, Dept Pediat, Chicago, IL USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2010年 / 152A卷 / 11期

关键词：

Knobloch; retinal degeneration; collagen XVIII; endostatin; acute lymphoblastic leukemia; CELL LUNG-CANCER; SERUM ENDOSTATIN; GENETIC-HETEROGENEITY; ENDOGENOUS INHIBITOR; MOLECULAR ANALYSIS; TUMOR-GROWTH; ANGIOGENESIS; DEGENERATION; PROGRESSION; EXPRESSION;

D O I：

10.1002/ajmg.a.33621

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2010 Wiley-Liss, Inc.

引用

页码：2875 / 2879

页数：5

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