EXOSC2 and retinitis pigmentosa: In contrast to the other exosomopathy mutations described thus far, missense mutations in the cap subunit gene EXOSC2 have been linked to a novel, complex syndrome characterized by retinitis pigmentosa, progressive hearing loss, premature aging, short stature, mild intellectual disability and distinctive gestalt (Di Donato et al. 2016), later named SHRF (short stature, hearing loss, retinitis pigmentosa and distinctive facies) (OMIM #617763) (Yang et al. 2019).