A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes
1University of Oulu, Faculty of Medicine, Medicine
|Online Access:||PDF Full Text (PDF, 2.6 MB)|
|Persistent link:|| http://urn.fi/URN:NBN:fi:oulu-202212313886
Oulu : L. Lähteenoja,
|Publish Date:|| 2023-01-12
|Thesis type:||Other thesis
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.
Opinnäytteenä julkaisu: Lähteenoja, L., Häkli, S., Tuupanen, S., Kuismin, O., Palosaari, T., Rahikkala, E., & Falck, A. (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. https://doi.org/10.1080/13816810.2022.2045511
Rinnakkaistallennettu versio http://urn.fi/urn:nbn:fi-fe2022092159767
The thesis is publication: Lähteenoja, L., Häkli, S., Tuupanen, S., Kuismin, O., Palosaari, T., Rahikkala, E., & Falck, A. (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. https://doi.org/10.1080/13816810.2022.2045511
Self-archived version http://urn.fi/urn:nbn:fi-fe2022092159767
© 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 (http://creativecommons.org/licenses/by-nc-nd/4.0/), 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.