Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Collagen type XVIII, alpha 1

The COL18A1 gene encodes a collagen that like Collagen IV is common in basement membranes. Mutations cause autosomal recessive Knobloch syndrome and may modify the clinical presentation of glaucomas.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Modifiers of clinical glaucoma presentation
COL15A1
COL18A1
Knobloch syndrome 1
COL18A1

References:

1.

Czeizel AE et. al. (1992) The second report of Knobloch syndrome.

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2.

O'Reilly MS et. al. (1994) Angiostatin: a novel angiogenesis inhibitor that mediates the suppression of metastases by a Lewis lung carcinoma.

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3.

Oh SP et. al. (1994) Isolation and sequencing of cDNAs for proteins with multiple domains of Gly-Xaa-Yaa repeats identify a distinct family of collagenous proteins.

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4.

Rehn M et. al. (1994) Alpha 1(XVIII), a collagen chain with frequent interruptions in the collagenous sequence, a distinct tissue distribution, and homology with type XV collagen.

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5.

Oh SP et. al. (1994) Cloning of cDNA and genomic DNA encoding human type XVIII collagen and localization of the alpha 1(XVIII) collagen gene to mouse chromosome 10 and human chromosome 21.

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6.

Rehn M et. al. (1996) Characterization of the mouse gene for the alpha 1 chain of type XVIII collagen (Col18a1) reveals that the three variant N-terminal polypeptide forms are transcribed from two widely separated promoters.

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7.

O'Reilly MS et. al. (1997) Endostatin: an endogenous inhibitor of angiogenesis and tumor growth.

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8.

Saarela J et. al. (1998) Complete primary structure of two variant forms of human type XVIII collagen and tissue-specific differences in the expression of the corresponding transcripts.

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9.

Sertié AL et. al. (2000) Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).

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10.

Karumanchi SA et. al. (2001) Cell surface glypicans are low-affinity endostatin receptors.

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11.

Iughetti P et. al. (2001) A polymorphism in endostatin, an angiogenesis inhibitor, predisposes for the development of prostatic adenocarcinoma.

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12.

Suzuki OT et. al. (2002) Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.

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13.

Sudhakar A et. al. (2003) Human tumstatin and human endostatin exhibit distinct antiangiogenic activities mediated by alpha v beta 3 and alpha 5 beta 1 integrins.

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14.

Marneros AG et. al. (2003) Age-dependent iris abnormalities in collagen XVIII/endostatin deficient mice with similarities to human pigment dispersion syndrome.

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15.

Menzel O et. al. (2004) Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.

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16.

Utriainen A et. al. (2004) Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line.

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17.

Suzuki OT et. al. (2005) How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?

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18.

Keren B et. al. (2007) CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.

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19.

Shi H et. al. (2007) Nucleolin is a receptor that mediates antiangiogenic and antitumor activity of endostatin.

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20.

Khaliq S et. al. (2007) Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.

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21.

Paisán-Ruiz C et. al. (2009) Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder.

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22.

Mahajan VB et. al. (2010) Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.

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23.

Joyce S et. al. (2010) Locus heterogeneity and Knobloch syndrome.

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24.

Najmabadi H et. al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

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25.

Aldahmesh MA et. al. (2013) No evidence for locus heterogeneity in Knobloch syndrome.

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Update: Sept. 26, 2018