A novel MERTK mutation causing retinitis pigmentosa.

ABSTRACT:

Purpose

Retinitis pigmentosa (RP) is a genetically heterogeneous inherited retinal dystrophy. To date, over 80 genes have been implicated in RP. However, the disease demonstrates significant locus and allelic heterogeneity not entirely captured by current testing platforms. The purpose of the present study was to characterize the underlying mutation in a patient with RP without a molecular diagnosis after initial genetic testing.

Methods

Whole-exome sequencing of the affected proband was performed. Candidate gene mutations were selected based on adherence to expected genetic inheritance pattern and predicted pathogenicity. Sanger sequencing of MERTK was completed on the patient's unaffected mother, affected brother, and unaffected sister to determine genetic phase.

Result

SUBMITTER: Al-Khersan H 

PROVIDER: S-EPMC5542860 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature