Article
Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration.
Cold Spring Harbor molecular case studies - 1 Dec 2022
Sangermano Riccardo, Biswas Pooja, Sullivan Lori S, Place Emily M, Borooah Shyamanga, Straubhaar Juerg, Pierce Eric A, Daiger Stephen P, Bujakowska Kinga M, Ayaggari Radha
Abstract excerpt
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 PDE6B gene in the affected twins and their unaffected father. Further investigation, using genome sequencing,...
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