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Article

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.

Journal of medical genetics - 1 Sept 2011

Aldahmesh Mohammed A, Khan Arif O, Mohamed Jawahir Y, Alkuraya Hisham, Ahmed Hala, Bobis Steve, Al-Mesfer Saleh, Alkuraya Fowzan S

Abstract excerpt

BACKGROUND: Knobloch syndrome (KS) is a developmental disorder characterised by occipital skull defect, high myopia, and vitreo-retinal degeneration. Although genetic heterogeneity has been suspected, COL18A1 is the only known KS disease gene to date. OBJECTIVE: To identify a novel genetic cause of KS in a cohort of Saudi KS patients enrolled in this study. METHODS: When COL18A1 mutation was excluded,...

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Identifiers

PMID: 21862674
DOI: 10.1136/jmedgenet-2011-100306

Genes

ADAMTS18

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.PMID 21862674Read ↗

Clinical and Molecular Findings in Patients with Knobloch Syndrome 1: Case Series Report.Semantic proximity Read ↗

Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.Semantic proximity Read ↗

‘‘Genomic Insights into Knobloch Syndrome: A Meta-Analytical Perspective’’Semantic proximity Read ↗

Three cases of molecularly confirmed Knobloch syndrome.Semantic proximity Read ↗

Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch SyndromeSemantic proximity Read ↗

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).Semantic proximity Read ↗

Knobloch syndrome in a patient from Chile.Semantic proximity Read ↗

Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.Semantic proximity Read ↗

Expansion of ocular phenotypic features associated with mutations in ADAMTS18.Semantic proximity Read ↗

Mutations in collagen 18A1 and their relevance to the human phenotype.Semantic proximity Read ↗

Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.Semantic proximity Read ↗

Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.Semantic proximity Read ↗

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