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Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants.

ABSTRACT: Variants in the retinitis pigmentosa GTPase regulator (RPGR) gene are a major cause of X-linked inherited retinal disorder (IRD). We herein describe the clinical and genetic features of 14 patients from 13 Japanese families harboring RPGR variants in a nationwide cohort. Comprehensive ophthalmological examinations were performed to classify the patients into one of the phenotype subgroups: retinitis pigmentosa (RP) and cone rod dystrophy (CORD). The mean age of onset/at examination was 13.8/38.1 years (range, 0-50/11-72), respectively. The mean visual acuity in the right/left eye was 0.43/0.43 (range, 0.1-1.7/-0.08-1.52) LogMAR unit. Eight patients had RP, and six had CORD. Whole-exome sequencing with target analyses identified 13 RPGR variants in 730 families with IRD, including 8 novel variants. An association between the phenotype subgroup and the position of variants (cutoff of amino acid 950) was revealed. To conclude, the clinical and genetic spectrum of RPGR-associated retinal disorder was first illustrated in a Japanese population, with a high proportion of novel variants. These results suggest the distinct genetic background of RPGR in the Japanese population, in which the genotype-phenotype association was affirmed. This evidence should be helpful monitoring and counseling patients and in selecting patients for future therapeutic trials.

SUBMITTER: Mawatari G

PROVIDER: S-EPMC6804603 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Background and aims:Pollination by fungus gnats (Mycetophilidae and Sciaridae) is uncommon, but is nevertheless known to occur in 20 genera among eight angiosperm families. Because many fungus gnat-pollinated plants possess a dark red floral display, we hypothesized that fungus gnat pollination is more widespread among plants with similar floral display than currently known. We thus studied the pollination biology of flowers with dark red pigmentation in five families, focusing particularly on plants having small, flat, actinomorphic flowers with exposed nectaries and short stamens, because these floral characteristics mirror those of a known fungus gnat-pollinated genus (Mitella). Methods:We observed daytime and night-time floral visitors for a total of 194.5 h in Aucuba japonica (Garryaceae), Euonymus spp. (Celastraceae), Disanthus cercidifolius (Hamamelidaceae), Micranthes fusca (Saxifragaceae) and Streptopus streptopoides (Liliaceae). Visitors were categorized into functional groups, and a pollination importance index (PII) was calculated for each functional group based on visitation frequency, pollen load and behaviour on flowers. Key results:Fungus gnats were dominant among the 1762 insects observed (36-92 % depending on the plant species) and were the most important pollinators among all plants studied (PII: 0.529-1). Fungus gnat visits occurred during the daytime and, more frequently, at dusk. Most often, pollen grains became clumped on the ventral side of the head and/or thorax as the short-proboscid fungus gnats foraged on nectar and came into contact with anthers located close to the flower base. Conclusions:Pollination by fungus gnats is probably more common than previously thought, especially in habitats similar to those of the plants studied (moist forest understorey, streamside or subalpine meadow) where fungus gnats are abundant year-round. Our results further suggest that there may be a previously unnoticed association between fungus gnat pollination and dark red coloration, and a shared overall floral architecture among the plants studied.

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Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants.

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