Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.

ABSTRACT:

Background

Retinoblastoma (Rb) is the most prevalent intraocular pediatric malignancy of the retina. Significant genetic factors are known to have a role in the development of Rb.

Methods

Here, we report the mutation status of 4813 clinically significant genes in six patients with noncarrier of RB1 gene mutation and having normal RB1 promoter methylation from three families having higher risk for developing Rb in the study.

Results

A total of 27 variants were detected in the study. Heterozygous missense variants c.1162G > A (p.Gly388Arg) in the FGFR4 gene; c.559C > T (p.Pro187Ser) in the NQO1 gene were identified. The family based evaluation of the variants showed that the variant, c.714T > G (p.Tyr238Ter), in the CLEC7A gene in first family; the variant, c.55C > T (p

SUBMITTER: Akdeniz D 

PROVIDER: S-EPMC6687622 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature