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)

Knobloch syndrome (KS) is an autosomal recessive disorder defined by the occurrence of high myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities and occipital encephalocele. The KS causative gene had been assigned to a 4.3 cM interval at 21q22.3 by linkage analysis of a...

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Bibliographic Details
Published in:Human molecular genetics 2000-08, Vol.9 (13), p.2051-2058
Main Authors: SERTIE, A. L, SOSSI, V, CAMARGO, A. A, ZATZ, M, BRAHE, C, PASSOS-BUENO, M. R
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adult
Alleles
Angiogenesis Inhibitors - genetics
Biological and medical sciences
chromosome 21
Chromosomes, Human, Pair 21
Collagen (type XVIII)
Collagen - genetics
Complex syndromes
Embryo, Mammalian - cytology
Embryo, Mammalian - metabolism
Eye Abnormalities - genetics
Female
Genetic Markers
Haplotypes
Humans
Introns
Knobloch syndrome
Male
Medical genetics
Medical sciences
Neoplasms - genetics
Neovascularization, Pathologic
Neural Tube Defects - genetics
Organ Specificity
Pedigree
Physical Chromosome Mapping
Polymorphism, Single-Stranded Conformational
Reverse Transcriptase Polymerase Chain Reaction
RNA Splicing
Syndrome
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Description
Summary:Knobloch syndrome (KS) is an autosomal recessive disorder defined by the occurrence of high myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities and occipital encephalocele. The KS causative gene had been assigned to a 4.3 cM interval at 21q22.3 by linkage analysis of a large consanguineous Brazilian family. We reconstructed the haplotypes of this family with ten additional markers (five were novel) and narrowed the candidate interval to a region of
ISSN:0964-6906
1460-2083
1460-2083
DOI:10.1093/hmg/9.13.2051