Case report: A novel missense variant in melanopsin associates with delayed sleep phenotype: Whole genome sequencing study.

ABSTRACT: Melanopsin (OPN4) is a blue light-sensitive opsin-type G-protein coupled receptor. It is highly expressed in photosensitive retinal ganglion cells which mediate responses to light, including regulation of sleep, circadian photoentrainment, and pupillary light response. Mutations in OPN4 were shown to affect responses to light, ultimately affecting the regulation of circadian rhythms and sleep. In this study, we describe a male carrier of the OPN4 missense variant diagnosed with delayed sleep-wake phase disorder (DSWPD), with a consistent recurrent pattern of delayed sleep onset The rs143641898 [NM_033282.4:c.502C>T p.(Arg168Cys)] variant in the OPN4 gene was shown in a functional study to render the OPN4 protein non-functional. The variant is rare and likely increases

SUBMITTER: Smieszek SP 

PROVIDER: S-EPMC9561615 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature