Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.

ABSTRACT:

Background

Microphthalmia and anophthalmia (MA) are congenital eye abnormalities that show an extremely high clinical and genetic complexity. In this study, we evaluated the implementation of whole exome sequencing (WES) for the genetic analysis of MA patients. This approach was used to investigate three unrelated families in which previous single-gene analyses failed to identify the molecular cause.

Methods

A total of 47 genes previously associated with nonsyndromic MA were included in our panel. WES was performed in one affected patient from each family using the AmpliSeq^TM Exome technology and the Ion Proton^TM platform.

Results

A novel heterozygous OTX2 missense mutation was identified in a patient showing bilateral anophthalmia who inherited

SUBMITTER: Riera M 

PROVIDER: S-EPMC5702572 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature