ArticleDocumenta ophthalmologica. Advances in ophthalmology2020
Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 6 citations in OpenAlex.
- Bardet-Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene.Documenta ophthalmologica. Advances in ophthalmology · 2023Article
- Vitamin A deficiency after prolonged intake of an unbalanced diet in a Japanese hemodialysis patient.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation inBioMed research international · 2021Article
- Clinical characteristics and ultra-widefield fundus image analysis of two siblings with Bardet-Biedl syndrome type 1 p.Met390Arg variant.American journal of ophthalmology case reports · 2020Article
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11 authors at 2 institutions in 1 country.
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Abstract
purposeTo report the clinical and genetic features of a 9-year-old female Japanese patient with Bardet-Biedl syndrome (BBS).
methodsGenetic analysis using whole-exome sequencing (WES) was performed for the patient and her parents to identify disease-causing variants. Reverse transcriptase-polymerase chain reaction (RT-PCR) was performed to investigate the impact of splice-site variants. Comprehensive ophthalmic and systemic examinations, including electroretinography (ERG), were performed.
resultsIn the patient, WES identified novel compound heterozygous splice-site variants (c.124+2T>G and c.723+2T>G) in the BBS1 gene, and RT-PCR revealed skipping of exons 2 and 8 (p.N17AfsX56 and p.T198_K241del). Each parent had one of the variants. Ophthalmologically, the patient's decimal best-corrected visual acuity was 0.6 in the right eye and 0.4 in the left eye. Funduscopy revealed no apparent retinal degeneration or narrowed blood vessels in the periphery, but macular abnormalities were found on fundus autofluorescence imaging and optical coherence tomography images. Unexpectedly, non-recordable responses in rod ERG were found, with a non-recordable response of the right eye and an extremely reduced and delayed a-wave of the left eye in standard ERG, non-recordable responses in cone ERG, and extremely decreased responses in 30 Hz flicker ERG. Finally, the patient fulfilled four primary features of BBS diagnostic criteria: rod-cone dystrophy, polydactyly, central obesity, and learning disabilities, being diagnosed with BBS.
conclusionsThis is the first report of a BBS patient with biallelic splice-site BBS1 variants in the Japanese population. Disparity between funduscopic and ERG findings may be a feature of BBS1-associated rod-cone dystrophy.
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