Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.

ABSTRACT: Herein we present a consanguineous family with three children affected by foveal hypoplasia with infantile nystagmus, following an autosomal recessive mode of inheritance. The patients showed normal electroretinography responses, no signs of albinism, and no anterior segment or brain abnormalities. Upon whole exome sequencing, we identified a homozygous mutation (c.1861C>T;p.Q621*) in the aryl hydrocarbon receptor (AHR) gene that perfectly co-segregated with the disease in the larger family. AHR is a ligand-activated transcription factor that has been intensively studied in xenobiotic-induced toxicity. Further, it has been shown to play a physiological role under normal cellular conditions, such as in immunity, inflammatory response and neurogenesis. Notably, knockout of the Ahr gene in mo

SUBMITTER: Mayer AK 

PROVIDER: S-EPMC6766433 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature