Collagen XVIII Mutation in Knobloch Syndrome with Acute Lymphoblastic Leukemia

Vinit B Mahajan; Ann Haskins Olney; Penny Garrett; Ajit Chary; Ecaterina Dragan; Gary Lerner; Jeffrey Murray; Alexander G Bassuk

doi:10.1002/ajmg.a.33621

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Collagen XVIII Mutation in Knobloch Syndrome with Acute Lymphoblastic Leukemia

Journal article

Peer reviewed

Collagen XVIII Mutation in Knobloch Syndrome with Acute Lymphoblastic Leukemia

Vinit B Mahajan, Ann Haskins Olney, Penny Garrett, Ajit Chary, Ecaterina Dragan, Gary Lerner, Jeffrey Murray and Alexander G Bassuk

American journal of medical genetics. Part A, Vol.152A(11), pp.2875-2879

11/2010

DOI: 10.1002/ajmg.a.33621

PMCID: PMC2965270

PMID: 20799329

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Abstract

Knobloch syndrome (KNO) is caused by mutations in the collagen XIII 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-base pair 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.

Details

Title: Subtitle: Collagen XVIII Mutation in Knobloch Syndrome with Acute Lymphoblastic Leukemia
Creators: Vinit B Mahajan - Department of Ophthalmology and Visual Sciences, The University of Iowa Hospitals & Clinics, Iowa City, IA
Ann Haskins Olney - Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha NE
Penny Garrett - Iowa Education Agency
Ajit Chary - Department of Pediatrics, Northwestern University, Chicago IL
Ecaterina Dragan - Departments of Pediatrics, University of Iowa, Iowa City IA
Gary Lerner - Children’s Hospital, Omaha NE
Jeffrey Murray - Departments of Pediatrics, University of Iowa, Iowa City IA
Alexander G Bassuk - Departments of Pediatrics, University of Iowa, Iowa City IA
Resource Type: Journal article
Publication Details: American journal of medical genetics. Part A, Vol.152A(11), pp.2875-2879
DOI: 10.1002/ajmg.a.33621
PMID: 20799329
PMCID: PMC2965270
NLM abbreviation: Am J Med Genet A
ISSN: 1552-4825
eISSN: 1552-4833
Language: English
Date published: 11/2010
Academic Unit: Neurology; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Iowa Neuroscience Institute; Pediatric Dentistry; Craniofacial Anomalies Research Center; Neurology (Pediatrics); Dental Research
Record Identifier: 9984020788802771

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