Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree

Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree

Retinitis pigmentosa (RP) causes progressive photoreceptor loss resulting from mutations in over 80 genes. This study identified the genetic cause of RP in three members of a non-consanguineous pedigree. Detailed ophthalmic evaluation was performed in the three affected family members. Whole exome s...

Full description

Bibliographic Details
Main Authors: Kevin Gustafson, Jacque L. Duncan, Pooja Biswas, Angel Soto-Hermida, Hiroko Matsui, David Jakubosky, John Suk, Amalio Telenti, Kelly A. Frazer, Radha Ayyagari
Format: Article
Language:English
Published: MDPI AG 2017-08-01
Series:Genes
Subjects:
retina
genetics
retinitis pigmentosa
Online Access:https://www.mdpi.com/2073-4425/8/9/210

Internet

https://www.mdpi.com/2073-4425/8/9/210

Similar Items