Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis
| Autor: | Richard Bonshek, Jill Clayton-Smith, Graeme C.M. Black, I. Christopher Lloyd, Mark Cahill, Rahat Perveen, David McLeod |
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| Rok vydání: | 1999 |
| Předmět: |
Male
medicine.medical_specialty Pathology X Chromosome Mutation Missense Neovascularization Physiologic Nerve Tissue Proteins Heteroduplex Analysis Biology Blindness Eye Enucleation Retina chemistry.chemical_compound Germline mutation Retinal Diseases Dosage Compensation Genetic Internal medicine Genetics medicine Humans Missense mutation Telangiectasis Coats' disease Child Eye Proteins Molecular Biology Polymorphism Single-Stranded Conformational Genetics (clinical) Neovascularization Pathologic Mosaicism Infant Newborn Retinal Detachment Retinal Vessels Retinal Syndrome General Medicine Exudative retinal detachment medicine.disease Pedigree medicine.anatomical_structure Endocrinology Amino Acid Substitution chemistry Female Retinal Dysplasia Retinal Telangiectasis Norrie disease |
| Zdroj: | Human Molecular Genetics. 8:2031-2035 |
| ISSN: | 1460-2083 |
| Popis: | Coats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment). The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males. A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease. Both carried a missense mutation within the NDP gene on chromosome Xp11.2. Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue. We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina. This supports recent observations that the protein is critical for normal retinal vasculogenesis. |
| Databáze: | OpenAIRE |
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