Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.
Mol Vis
; 13: 611-7, 2007 Apr 19.
Article
em En
| MEDLINE
| ID: mdl-17515881
ABSTRACT
PURPOSE:
X-linked juvenile retinoschisis (XLRS) is the leading cause of macular degeneration in males. This condition is caused by mutations in the RS1 gene and is, characterized by schisis within the retina. The purpose of this study was to identify the mutations in the RS1 gene associated with XLRS in an Indian cohort.METHODS:
The coding region of RS1 was analyzed for mutations by polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) and restriction fragment length polymorphism (RFLP) analysis in six unrelated subjects clinically diagnosed as having XLRS and in their available family members. Direct sequencing was performed for all samples that displayed an electrophoretic mobility shift in SSCP gel.RESULTS:
Mutation analysis of RS1 gene revealed five mutations in exon 6 like c.574C>T, c.583A>G, c.608C>T, c.617G>A, and c.637C>T, respectively, among them four missense mutations, one nonsense mutation, and two novel sequence variations. These mutations were found in individuals who exhibited clinical features of bilateral foveal and peripheral retinoschisis consistent with XLRS. The mutations were absent in the 100 age matched control samples analyzed.CONCLUSIONS:
This is the first report of mutations in RS1 to be associated with XLRS in the Indian population. The identified genetic variations, phenotype and genotype correlations were consistent with other studies. Identification of the causative mutation in patients with XLRS is helpful in confirming the diagnosis and in counseling of family members.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Variação Genética
/
Retinosquise
/
Povo Asiático
/
Proteínas do Olho
Limite:
Adolescent
/
Adult
/
Child
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Mol Vis
Assunto da revista:
BIOLOGIA MOLECULAR
/
OFTALMOLOGIA
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
Índia