NDP gene mutations in 14 French families with Norrie disease.
Hum Mutat
; 22(6): 499, 2003 Dec.
Article
em En
| MEDLINE
| ID: mdl-14635119
ABSTRACT
Norrie disease is a rare X-inked recessive condition characterized by congenital blindness and occasionally deafness and mental retardation in males. This disease has been ascribed to mutations in the NDP gene on chromosome Xp11.1. Previous investigations of the NDP gene have identified largely sixty disease-causing sequence variants. Here, we report on ten different NDP gene allelic variants in fourteen of a series of 21 families fulfilling inclusion criteria. Two alterations were intragenic deletions and eight were nucleotide substitutions or splicing variants, six of them being hitherto unreported, namely c.112C>T (p.Arg38Cys), c.129C>G (p.His43Gln), c.133G>A (p.Val45Met), c.268C>T (p.Arg90Cys), c.382T>C (p.Cys128Arg), c.23479-1G>C (unknown). No NDP gene sequence variant was found in seven of the 21 families. This observation raises the issue of misdiagnosis, phenocopies, or existence of other X-linked or autosomal genes, the mutations of which would mimic the Norrie disease phenotype.
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Base de dados:
MEDLINE
Assunto principal:
Retina
/
Anormalidades Múltiplas
/
Cegueira
/
Proteínas do Olho
/
Mutação
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Middle aged
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2003
Tipo de documento:
Article