DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.

Anjali VigJames A PoulterDaniele OttavianiErika TavaresKaterina ToropovaAnna Maria TracewskaAntonio MollicaJasmine KangOshini KehelwathugodaTara PatonJason T MaynesGabrielle WhewayGavin Arnonull nullKamron N KhanMartin McKibbinCarmel ToomesManir AliMatteo Di ScipioShuning LiJamie EllingfordGraeme BlackAndrew WebsterMałgorzata RydzaniczPiotr StawińskiRafał PłoskiAjoy VincentMichael E CheethamChris F InglehearnAnthony RobertsElise Heon

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

The DYNC2H1 variants discussed herein were either hypomorphic or affecting a retina-predominant transcript and caused nonsyndromic IRD. Dynein variants, specifically DYNC2H1 variants are reported as a cause of non syndromic IRD.

Keyphrases

copy number
diabetic retinopathy
optic nerve
optical coherence tomography
rna seq