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Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.

TitleCollagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.
Publication TypeJournal Article
Year of Publication2010
AuthorsMahajan, Vinit B., Olney Ann Haskins, Garrett Penny, Chary Ajit, Dragan Ecaterina, Lerner Gary, Murray Jeffrey, and Bassuk Alexander G.
JournalAmerican journal of medical genetics. Part A
Date Published2010 Nov
KeywordsBase Sequence, Child, Child, Preschool, Collagen Type XVIII, DNA Mutational Analysis, Encephalocele, Eye Abnormalities, Family, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Molecular Sequence Data, Mutation, Pedigree, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Retinal Detachment

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.

Alternate JournalAm. J. Med. Genet. A