SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.

ABSTRACT:

Purpose

To report novel genotypes and expand the phenotype spectrum of SSBP1-disease and explore potential disease mechanism.

Methods

Five families with previously unsolved optic atrophy and retinal dystrophy underwent whole genome sequencing as part of the National Institute for Health Research BioResource Rare-Diseases and the UK's 100,000 Genomes Project. In silico analysis and protein modelling was performed on the identified variants. Deep phenotyping including retinal imaging and International Society for Clinical Electrophysiology of Vision standard visual electrophysiology was performed.

Results

Seven individuals from five unrelated families with bilateral optic atrophy and/or retinal dystrophy with extraocular signs and symptoms in some are described. In tota

SUBMITTER: Jurkute N 

PROVIDER: S-EPMC8684315 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature