Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.

Guillaume OlivierMarta CortonDaniela IntartagliaSanne K VerbakelPanagiotis I SergouniotisGuylène Le MeurClaire-Marie DhaenensHélène NaackeAlmudena Avila-FernándezCarel B HoyngJeroen KleveringBéatrice BocquetAgathe RoubertieAudrey SénéchalSandro BanfiAgnès MullerChristian L HamelGraeme C BlackIvan ConteSusanne RoosingXavier ZanlonghiCarmen AyusoIsabelle MeunierGaël Manes

Published in: Journal of medical genetics (2020)

This study discusses a previously unreported association between monoallelic or biallelic IMPG1 variants and RP. Notably, similar observations have been reported for IMPG2.

Keyphrases

copy number
intellectual disability
gene expression
dna methylation