A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an austrian family with Norrie disease.
Audiol Neurootol
; 19(3): 203-9, 2014.
Article
em En
| MEDLINE
| ID: mdl-24801666
ABSTRACT
Norrie disease is a rare, X-linked genetic syndrome characterized by combined congenital blindness and progressive hearing impairment. Norrie disease is caused by alterations in the NDP gene encoding the growth factor norrin that plays a key role in vascular development and stabilization of the eye, inner ear and brain. We identified a family with 3 affected deafblind males and a single female carrier presenting with a serous retinal detachment but normal hearing. Genetic analysis revealed a novel c.277T>C missense mutation causing the substitution of a hydrophobic cysteine to a hydrophilic arginine [p.(Cys93Arg)] within the highly conserved cysteine knot domain of the norrin protein. These results should expand the scope for amniocentesis and genetic testing for Norrie disease which is gaining in importance due to novel postnatal therapeutic concepts to alleviate the devastating retinal symptoms of Norrie disease.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Espasmos Infantis
/
Cegueira
/
Mutação de Sentido Incorreto
/
Proteínas do Olho
/
Proteínas do Tecido Nervoso
/
Doenças do Sistema Nervoso
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Audiol Neurootol
Assunto da revista:
AUDIOLOGIA
/
PSICOFISIOLOGIA
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
Áustria