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| Format: | Artículo científico |
| Sprache: | en |
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Ophthalmic genetics
2026
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| Online-Zugang: | https://pubmed.ncbi.nlm.nih.gov/41403104/ |
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| author | Domoto, Aya Kuniyoshi, Kazuki Suga, Akiko Mizobuchi, Kei Yoshitake, Kazutoshi Kawai, Yosuke Omae, Yosuke Tokunaga, Katsushi Sawa, Miki Hayashi, Takaaki Mano, Fukutaro Sakamoto, Masuo Iwahashi, Chiharu Nakano, Tadashi Iwata, Takeshi Kusaka, Shunji |
| author_facet | Domoto, Aya Kuniyoshi, Kazuki Suga, Akiko Mizobuchi, Kei Yoshitake, Kazutoshi Kawai, Yosuke Omae, Yosuke Tokunaga, Katsushi Sawa, Miki Hayashi, Takaaki Mano, Fukutaro Sakamoto, Masuo Iwahashi, Chiharu Nakano, Tadashi Iwata, Takeshi Kusaka, Shunji Domoto, Aya Kuniyoshi, Kazuki Suga, Akiko Mizobuchi, Kei Yoshitake, Kazutoshi Kawai, Yosuke Omae, Yosuke Tokunaga, Katsushi Sawa, Miki Hayashi, Takaaki Mano, Fukutaro Sakamoto, Masuo Iwahashi, Chiharu Nakano, Tadashi Iwata, Takeshi Kusaka, Shunji |
| collection | PubMed - marine biology |
| contents | A splice-site variant in the () gene identified in a symptomatic carrier woman. Domoto, Aya Kuniyoshi, Kazuki Suga, Akiko Mizobuchi, Kei Yoshitake, Kazutoshi Kawai, Yosuke Omae, Yosuke Tokunaga, Katsushi Sawa, Miki Hayashi, Takaaki Mano, Fukutaro Sakamoto, Masuo Iwahashi, Chiharu Nakano, Tadashi Iwata, Takeshi Kusaka, Shunji Humans Female Adult Retinitis Pigmentosa Eye Proteins Heterozygote Pedigree RNA Splice Sites Visual Acuity Mutation Exome Sequencing Membrane Proteins GTP-Binding Proteins This report presents the clinical and genetic findings of a patient with a splice-site variant in the () gene.A 32-year-old Japanese woman was experiencing night blindness and reduced visual acuity since her twenties. Her parents were not consanguineous, and she had no family history of ocular disease. Fundus examination revealed irregular-shaped degeneration and fundus autofluorescence imaging showed abnormal hypofluorescence in the area of the retinal degeneration. As whole exome sequencing on her and her parents revealed unremarkable in RetNet genes, she was diagnosed as a sporadic case of retinitis pigmentosa (RP). However, subsequent whole genome sequencing revealed a heterozygous variant (c.102 + 2_102 + 5del) in the gene, but her parents did not carry the variant. Based on these clinical and genetic findings, we concluded that the patient was a symptomatic female carrier of -associated RP.This report underscores the importance of comprehensive genomic analysis and family-based evaluation in uncovering hidden inheritance patterns, specifically in symptomatic female carriers of X-linked retinal dystrophies that initially appear sporadic. This study represents the first report to characterize the clinical phenotype associated with the splice-site variant c.102 + 2_102 + 5del in . |
| format | Artículo científico |
| id | pubmed_41403104 |
| institution | PubMed |
| language | en |
| publishDate | 2026 |
| publisher | Ophthalmic genetics |
| record_format | pubmed |
| spellingShingle | A splice-site variant in the () gene identified in a symptomatic carrier woman. Domoto, Aya Kuniyoshi, Kazuki Suga, Akiko Mizobuchi, Kei Yoshitake, Kazutoshi Kawai, Yosuke Omae, Yosuke Tokunaga, Katsushi Sawa, Miki Hayashi, Takaaki Mano, Fukutaro Sakamoto, Masuo Iwahashi, Chiharu Nakano, Tadashi Iwata, Takeshi Kusaka, Shunji Humans Female Adult Retinitis Pigmentosa Eye Proteins Heterozygote Pedigree RNA Splice Sites Visual Acuity Mutation Exome Sequencing Membrane Proteins GTP-Binding Proteins A splice-site variant in the () gene identified in a symptomatic carrier woman. Domoto, Aya Kuniyoshi, Kazuki Suga, Akiko Mizobuchi, Kei Yoshitake, Kazutoshi Kawai, Yosuke Omae, Yosuke Tokunaga, Katsushi Sawa, Miki Hayashi, Takaaki Mano, Fukutaro Sakamoto, Masuo Iwahashi, Chiharu Nakano, Tadashi Iwata, Takeshi Kusaka, Shunji Humans Female Adult Retinitis Pigmentosa Eye Proteins Heterozygote Pedigree RNA Splice Sites Visual Acuity Mutation Exome Sequencing Membrane Proteins GTP-Binding Proteins This report presents the clinical and genetic findings of a patient with a splice-site variant in the () gene.A 32-year-old Japanese woman was experiencing night blindness and reduced visual acuity since her twenties. Her parents were not consanguineous, and she had no family history of ocular disease. Fundus examination revealed irregular-shaped degeneration and fundus autofluorescence imaging showed abnormal hypofluorescence in the area of the retinal degeneration. As whole exome sequencing on her and her parents revealed unremarkable in RetNet genes, she was diagnosed as a sporadic case of retinitis pigmentosa (RP). However, subsequent whole genome sequencing revealed a heterozygous variant (c.102 + 2_102 + 5del) in the gene, but her parents did not carry the variant. Based on these clinical and genetic findings, we concluded that the patient was a symptomatic female carrier of -associated RP.This report underscores the importance of comprehensive genomic analysis and family-based evaluation in uncovering hidden inheritance patterns, specifically in symptomatic female carriers of X-linked retinal dystrophies that initially appear sporadic. This study represents the first report to characterize the clinical phenotype associated with the splice-site variant c.102 + 2_102 + 5del in . |
| title | A splice-site variant in the () gene identified in a symptomatic carrier woman. |
| topic | Humans Female Adult Retinitis Pigmentosa Eye Proteins Heterozygote Pedigree RNA Splice Sites Visual Acuity Mutation Exome Sequencing Membrane Proteins GTP-Binding Proteins |
| url | https://pubmed.ncbi.nlm.nih.gov/41403104/ |