University of Oulu

Laura Lähteenoja, Sanna Häkli, Sari Tuupanen, Outi Kuismin, Tapani Palosaari, Elisa Rahikkala & Aura Falck (2022) A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes, Ophthalmic Genetics, 43:2, 152-158, DOI: 10.1080/13816810.2022.2045511

A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes

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Author: Lähteenoja, Laura1,2,3; Häkli, Sanna1,4; Tuupanen, Sari5;
Organizations: 1Pedego Research Unit and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland
2Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland
3Department of Ophthalmology, Oulu University Hospital, Oulu, Finland
4Department of Otorhinolaryngology, Oulu University Hospital, Oulu, Finland
5Blueprint Genetics, Espoo, Finland
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 2.5 MB)
Persistent link:
Language: English
Published: Informa, 2022
Publish Date: 2022-09-21


Background: Pathogenic variants in the CEP78 gene can present as atypical Usher syndrome or as retinitis pigmentosa. Here, we present a review of all reported cases of CEP78 variants in the literature to date and present a novel variant of CEP78, c.1261_1262delinsA, in a consanguineous northern Finnish family with two individuals.

Materials and methods: Our patients were first discovered in a registry-based study. Later, they gave their written consent for this study. In order to describe the genotype and phenotype, their historic clinical patient data and genetic data were gathered, and a clinical ophthalmic examination and an audiogram were performed. For this review, a PubMed search using the keyword CEP78 was carried out. The first article on CEP78 was published in the year 2007, and the publications from the years 2007–2021 were included.

Results: A large gene panel identified a homozygous CEP78 c.1261_1262delinsA variant in two affected siblings. In addition to the classical signs of retinitis pigmentosa, both siblings had large round atrophic spots in the mid periphery, and hyperautofluorescence of the macula. Patient 1 had age-related hearing impairment; patient 2 had normal hearing. In total, 20 articles have been published about CEP78. Eight of these papers report patient data with the affected individuals typically having retinal dystrophy combined with sensorineural hearing impairment, classified as atypical Usher syndrome.

Conclusions: Here, we present a comprehensive review of CEP78 and expand the knowledge of pathogenic CEP78 variants and the phenotypic variety.

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Series: Ophthalmic genetics
ISSN: 1381-6810
ISSN-E: 1744-5094
ISSN-L: 1381-6810
Volume: 43
Issue: 2
Pages: 152 - 158
DOI: 10.1080/13816810.2022.2045511
Type of Publication: A2 Review article in a scientific journal
Field of Science: 3111 Biomedicine
3121 General medicine, internal medicine and other clinical medicine
Funding: This study was funded by the Academy of Finland [decision number 338446], Juhani Aho Foundation for Medical Research, the Competitive State Research Financing of the Expert Responsibility Area of Oulu University Hospital, and the Finnish Medical Foundation [grant number 4967].
Academy of Finland Grant Number: 338446
Detailed Information: 338446 (Academy of Finland Funding decision)
Copyright information: © 2022 The Author(s). Published with license by Taylor & Francis Group, LLC. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License (, which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited, and is not altered, transformed, or built upon in any way.