Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis.

ABSTRACT:

Purpose

Retinoblastoma (RB) is a rare intraocular malignant tumor of the developing retina with an estimated incidence of 1:20,000 live births in children under the age of 5 years. In addition to the abnormal whitish appearance of the pupil or leukocoria, strabismus has also been reported as a clinical symptom of the disease. RB1 is the first cloned tumor suppressor gene, and mutational inactivation of this gene is responsible for the development of RB during early childhood. The purpose of this study was to identify mutational alterations in the RB1 gene in Pakistani patients with RB.

Methods

During this study, 70 clinically evaluated patients with RB were recruited from different regions of Pakistan. The cases included 23 sporadic bilateral (32.9%), 34 sporadic unilateral

SUBMITTER: Kalsoom S 

PROVIDER: S-EPMC4575903 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature