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.

Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations / R. Romaniello, F. Arrigoni, A. Citterio, A. Tonelli, C. Sforzini, C. Rizzari, M. Pessina, F. Triulzi, M.T. Bassi, R. Borgatti. - In: JOURNAL OF CHILD NEUROLOGY. - ISSN 0883-0738. - 28:12(2013 Dec), pp. 1702-1708. [10.1177/0883073812467849]

Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations

F. Arrigoni;A. Citterio;A. Tonelli;F. Triulzi;M.T. Bassi;
2013

Abstract

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.
cerebral calcification; CTC1 genes; leukoencephalopathy; NDP gene; Ataxia; Brain Neoplasms; Calcinosis; Central Nervous System Cysts; Child; Eye Proteins; Genetic Association Studies; Humans; Leukoencephalopathies; Male; Muscle Spasticity; Mutation; Nerve Tissue Proteins; Retinal Diseases; Seizures; Telomere-Binding Proteins
Settore MED/37 - Neuroradiologia
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/821572
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