Identification of a novel p.R1443W mutation in RP1 gene associated with retinitis pigmentosa sine pigmento.

ABSTRACT:

Aim

To screen mutations in the retinitis pigmentosa 1 (RP1) gene and the rhodopsin (RHO) gene in Chinese patients with retinitis pigmentosa sine pigmento (RPSP) and describe the genotype-phenotype relationship of the mutations.

Methods

Twenty affected, unrelated Chinese individuals with RPSP (4 autosomal dominant RPSP, 12 autosomal recessive RPSP and 4 unknown inheritance pattern) were recruited between 2009 and 2012. The clinical features were determined by complete ophthalmologic examinations. Polymerase chain reaction (PCR) and direct DNA sequencing were used to screen the entire coding region and splice junctions of the RP1 gene and the RHO gene. The cosegregation analysis and population frequency studies were performed for patients with identified mutations.

Results<

SUBMITTER: Ma L 

PROVIDER: S-EPMC3755298 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature