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

Abstract. 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

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

Abstract 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

Advances in Amazonian Peatland Discrimination With Multi-Temporal PALSAR Refines Estimates of Peatland Distribution, C Stocks and Deforestation

There is a data gap in our current knowledge of the geospatial distribution, type and extent of C rich peatlands across the globe. The Pastaza Marañón Foreland Basin (PMFB), within the Peruvian Amazon, is known to store large amounts of peat, but the remoteness of the region makes field data collection and mapping the distribution of peatland ecotypes challenging. Here we review methods for developing high accuracy peatland maps for the PMFB using a combination of multi-temporal synthetic aperture radar (SAR) and optical remote sensing in a machine learning classifier. The new map produced has 95% overall accuracy with low errors of commission (1–6%) and errors of omission (0–15%) for individual peatland classes. We attribute this improvement in map accuracy over previous maps of the region to the inclusion of high and low water season SAR images which provides information about seasonal hydrological dynamics. The new multi-date map showed an increase in area of more than 200% for pole forest peatland (6% error) compared to previous maps, which had high errors for that ecotype (20–36%). Likewise, estimates of C stocks were 35% greater than previously reported (3.238 Pg in Draper et al. (2014) to 4.360 Pg in our study). Most of the increase is attributed to pole forest peatland which contributed 58% (2.551 Pg) of total C, followed by palm swamp (34%, 1.476 Pg). In an assessment of deforestation from 2010 to 2018 in the PMFB, we found 89% of the deforestation was in seasonally flooded forest and 43% of deforestation was occurring within 1 km of a river or road. Peatlands were found the least affected by deforestation and there was not a noticeable trend over time. With development of improved transportation routes and population pressures, future land use change is likely to put South American tropical peatlands at risk, making continued monitoring a necessity. Accurate mapping of peatland ecotypes with high resolution (\u3c30 m) sensors linked with field data are needed to reduce uncertainties in estimates of the distribution of C stocks, and to aid in deforestation monitoring