Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations
| Autor: | Alessandra Tonelli, Marco Pessina, Maria Teresa Bassi, Cinzia Sforzini, Renato Borgatti, Romina Romaniello, Filippo Arrigoni, Andrea Citterio, Fabio Triulzi, Carmelo Rizzari |
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| Rok vydání: | 2012 |
| Předmět: |
Male
Pathology medicine.medical_specialty Telomere-Binding Proteins Nerve Tissue Proteins Biology medicine.disease_cause Compound heterozygosity Leukoencephalopathy Retinal Diseases Leukoencephalopathies Seizures medicine Missense mutation Humans Central Nervous System Cysts Child Eye Proteins Genetic Association Studies Mutation Brain Neoplasms Microangiopathy Calcinosis medicine.disease Muscle Spasticity Pediatrics Perinatology and Child Health Familial exudative vitreoretinopathy Ataxia Neurology (clinical) Norrie disease Cerebroretinal microangiopathy with calcifications and cysts |
| Zdroj: | Journal of child neurology. 28(12) |
| ISSN: | 1708-8283 |
| Popis: | Mutations in the conserved telomere maintenance component 1 ( CTC1) gene were recently described in Coats plus syndrome and in cerebroretinal microangiopathy with calcifications and cysts. Norrie disease protein ( NDP) gene was found mutated in Norrie disease, in Familial Exudative Vitreoretinopathy, and in Coats syndrome. Here we describe a boy affected by Norrie disease who developed typical features of cerebroretinal microangiopathy with calcifications and cysts. Direct sequencing of the CTC1 and NDP genes in this patient shows the presence of compound heterozygosity for 2 mutations in CTC1 (c.775G>A, pV259M and a novel microdeletion c.1213delG) and a missense mutation in the NDP gene (c.182T>C, p.L61P). Based on these genetic findings and on the expression of both genes in endothelial cells, we postulate that microangiopathy might be a primary underlying pathologic abnormality in cerebroretinal microangiopathy with calcifications and cysts. This hypothesis is further supported by magnetic resonance imaging (MRI) data showing multiple minute calcifications in the deep gray nuclei and in terminal arteriolar zones. |
| Databáze: | OpenAIRE |
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