title: 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.affiliation: Department of Ophthalmology and Visual Sciences, The University of Iowa Hospitals & Clinics, Iowa City, Iowa, USA.
authors.forename: Vinit B
authors.initials: VB
authors.lastname: Mahajan
authors.forename: Ann Haskins
authors.initials: AH
authors.lastname: Olney
authors.forename: Penny
authors.initials: P
authors.lastname: Garrett
authors.forename: Ajit
authors.initials: A
authors.lastname: Chary
authors.forename: Ecaterina
authors.initials: E
authors.lastname: Dragan
authors.forename: Gary
authors.initials: G
authors.lastname: Lerner
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Murray
authors.forename: Alexander G
authors.initials: AG
authors.lastname: Bassuk
mesh_terms: D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D043170:Collagen Type XVIII / Q000235:genetics*; D004252:DNA Mutational Analysis; D004677:Encephalocele / Q000150:complications / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics; D005190:Family; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000150:complications* / Q000235:genetics*; D012162:Retinal Degeneration; D012163:Retinal Detachment / Q000150:complications / Q000151:congenital / Q000235:genetics
chemical_list: D043170:Collagen Type XVIII
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