Identification of a Novel Large Multigene Deletion and a Frameshift Indel in PDE6B as the Underlying Cause of Early-Onset Recessive Rod-Cone Degeneration

Authors

Riccardo Sangermano
Pooja Biswas
Lori S Sullivan
Emily M Place
Shyamanga Borooah
Juerg Straubhaar
Eric A Pierce
Stephen P Daiger
Kinga M Bujakowska
Radha Ayaggari

Publication Date

12-1-2022

Journal

Cold Spring Harbor Molecular Case Studies

Abstract

A family, with two affected identical twins with early-onset recessive inherited retinal degeneration, was analyzed to determine the underlying genetic cause of pathology. Exome sequencing revealed a rare and previously reported causative variant (c.1923_1969delinsTCTGGG; p.Asn643Glyfs*29) in the

Keywords

Humans, Retinal Degeneration, Frameshift Mutation, Night Blindness, Blindness, INDEL Mutation, Pedigree, Mutation, Cyclic Nucleotide Phosphodiesterases, Type 6