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

Lähteenoja, Laura; Häkli, Sanna; Tuupanen, Sari; Kuismin, Outi; Palosaari, Tapani; Rahikkala, Elisa; Falck, Aura

doi:10.1080/13816810.2022.2045511

Cited by 3 publications

(1 citation statement)

References 15 publications

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“…Transmembrane protein [48,49] Involved in photoreceptor disk morphogenesis [48,49] 4p15.32 [48,49] TIMP3 Metallopeptidase inhibitor [50] Involved in ocular development [50] 22q12.3 [50] CCD2D2A Binding domain protein [3] Uncertain significance, possibly related to cilia structure and function [3] 4q21.1 [3] CEP78 Centrosomal protein [51] May be involved in ciliary functions [51] 9q21.13 [51] NR2E3 Nuclear receptor [3,21,22,52] Key transcription factor for photoreceptor development [3,21,22,52] 15q23 [21,22] PCARE Ciliary and actin-associated protein [3,23,53] Probably associated with the primary cilium of the outer segment [3,23,53] 2p23.2 [53]…”

Section: Cdh3mentioning

confidence: 99%

Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases

Ruggeri,

Ciancimino,

Guillot

et al. 2024

CIMB

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Posterior polar annular choroidal dystrophy (PPACD) is a rare ocular disorder and presents as symmetric degeneration of the retinal pigment epithelium (RPE) and the underlying choriocapillaris, encircling the retinal vascular arcades and optic disc. This condition distinctively preserves the foveal region, optic disc, and the outermost regions of the retina. Despite its distinct clinical presentation, due to the infrequency of its occurrence and the limited number of reported cases, the pathophysiology, and the genetic foundations of PPACD are still largely uncharted. This review aims to bridge this knowledge gap by investigating potential genetic contributors to PPACD, assessing current findings, and identifying genes that warrant further study. Emphasis is also placed on the crucial role of multimodal imaging in diagnosing PPACD, highlighting its importance in understanding disease pathophysiology. By analyzing existing case reports and drawing comparisons with similar retinal disorders, this paper endeavors to delineate the possible genetic correlations in PPACD, providing a foundation for future genetic research and the development of targeted diagnostic strategies.

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Section: Cdh3mentioning

confidence: 99%

Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases

Ruggeri,

Ciancimino,

Guillot

et al. 2024

CIMB

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Exploring the diverse clinical and variant spectrum of CEP78‐associated syndrome: Novel pathogenic variants identified in a case series

Zhai,

Ballios

2024

American J of Med Genetics Pt A

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Dual sensory impairment, commonly referred to as combined hearing and vision loss, can stem from a diverse spectrum of conditions, each presenting with its unique set of clinical characteristics. Our understanding of dual sensory impairment has expanded significantly in the past decade, broadening the scope of genetic differential diagnoses, including genes such as CEP250, ARSG, TUBB4B, CEP78, and ABHD12. A case series including three patients from two families with genetically diagnosed CEP78‐associated cone–rod dystrophy was identified. We collected and reviewed their clinical records, imaging data, and genetic testing results. In addition, a comprehensive literature review was conducted on the phenotype and the genetic testing modality employed in all published CEP78 cases through a PubMed search using the keyword “CEP78.” A retinal dystrophy panel detected a novel homozygous CEP78 pathogenic variant (c.1447C>T, p.Arg483*) in siblings—Cases 1 and 2—from Family 1. Both teenagers have a clinical diagnosis of cone–rod dystrophy with presumed normal hearing. Case 3 from Family 2, diagnosed with cone–rod dystrophy and early‐onset hearing loss, was found to carry a CEP78 pathogenic variant (c.1206‐2A>C) and a likely pathogenic variant (c.856_857del, p.Leu286Glyfs*12) also through panel‐based genetic testing. Intriguingly, neither of these variants was reported in an affected sibling's clinical whole‐exome sequencing (WES) report when performed in 2015. A review of CEP78‐related literature unveiled that the initial report linking CEP78 to cone–rod dystrophy and hearing loss was published in September 2016. Any pathogenic variant found in CEP78 before 2016 would have been categorized as a “clearly disruptive variant in a gene of uncertain significance (GUS)” and might not have been reported in the WES report. It is important to acknowledge that our understanding of genotype–phenotype associations is undergoing rapid expansion. It is also crucial to recognize that repeat genetic testing may represent a fundamentally different approach, given the technological advancements not only in the coverage of the sequencing but also in the more comprehensive understanding of genotype–phenotype associations. This case series also enriches the existing CEP78 literature by providing phenotypic details of the youngest case of CEP78‐associated retinopathy reported in the literature (Case 2), which expands our perspective on the natural history of disease in this disorder.

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Primary cilia as dynamic and diverse signalling hubs in development and disease

2023

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

Cited by 3 publications

References 15 publications

Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases

Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases

Exploring the diverse clinical and variant spectrum of CEP78‐associated syndrome: Novel pathogenic variants identified in a case series

Primary cilia as dynamic and diverse signalling hubs in development and disease

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