ArticleDocumenta ophthalmologica. Advances in ophthalmology2023
Bardet-Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 3 citations in OpenAlex.
- Best vitelliform macular dystrophy caused by a BEST1 p.(Ser246Asn) variant coexisting with diabetic retinopathy.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- A novelFrontiers in medicine · 2024Article
- Bardet-Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members.Frontiers in pediatrics · 2023Article
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Authors and funding
5 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundBardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by 6 primary features of rod-cone dystrophy, central obesity, polydactyly, cognitive impairment, hypogonadism and/or genitourinary malformations, and kidney abnormalities. At least 21 genes associated with BBS have been reported. To date, BBS associated with BBS12 variants has never been described in the Japanese population. We report a Japanese infant female with BBS with compound heterozygous BBS12 variants.
methodsIn addition to the pediatric examination, fundus photography, full-field electroretinogram(ffERG) and whole exome sequencing (WES) were underwent.
resultsThe infant exhibited obesity, polydactyly, cognitive impairment, genitourinary malformations, and kidney dysfunction. At the age of 2 years, ffERG revealed severe reduction in both rod- and cone-mediated electroretinographic responses consistent with a severe form of rod-cone dystrophy, with minimal retinal abnormalities. WES revealed novel compound heterozygous BBS12 variants (c.591T > A, p.Tyr197* and c.1372dupA, p.Thr458Asnfs*5) in the infant. Her parents carried each of the variants, as confirmed by Sanger sequencing.
conclusionsThe current observations will contribute to an expanded understanding of genotype-phenotype associations in BBS12-associated BBS.
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