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Article

CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family.

Ophthalmic genetics - 1 Aug 2018

Kubota Daiki, Gocho Kiyoko, Kikuchi Sachiko, Akeo Keiichiro, Miura Masahiro, Yamaki Kunihiko, Takahashi Hiroshi, Kameya Shuhei

Abstract excerpt

BACKGROUND: CEP250 encodes the C-Nap1 protein which belongs to the CEP family of proteins. C-Nap1 has been reported to be expressed in the photoreceptor cilia and is known to interact with other ciliary proteins. Mutations of CEP250 cause atypical Usher syndrome which is characterized by early-onset sensorineural hearing loss (SNHL) and a relatively mild retinitis pigmentosa. This study tested the hypothesis that...

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PMID: 29718797
DOI: 10.1080/13816810.2018.1466338

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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