Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.
J Child Neurol
; 28(12): 1702-8, 2013 Dec.
Article
en En
| MEDLINE
| ID: mdl-23220793
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedades de la Retina
/
Ataxia
/
Convulsiones
/
Neoplasias Encefálicas
/
Calcinosis
/
Quistes del Sistema Nervioso Central
/
Proteínas de Unión a Telómeros
/
Proteínas del Ojo
/
Leucoencefalopatías
/
Espasticidad Muscular
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
J Child Neurol
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
2013
Tipo del documento:
Article
País de afiliación:
Italia