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Bardet–Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene

  • Published:2022-12-27 Issue:2 Volume:146 Page:165-171
  • ISSN:0012-4486
  • Container-title:Documenta Ophthalmologica
  • language:en
  • Short-container-title:Doc Ophthalmol

Author:

Morohashi TamakiORCID,Hayashi TakaakiORCID,Mizobuchi KeiORCID,Nakano Tadashi,Morioka IchiroORCID

Funder

Santen

Alcon

Johnson and Johnson Vision

Daiichi-Sankyo

Chugai Pharmaceutical

Mitsubishi Tanabe Pharma Corporation

Senju

Bayer

Kyowa Hakko Kirin

Otsuka Pharmaceutical

Kowa Company

Ritz medical

Kuribara

Publisher

Springer Science and Business Media LLC

Subject

Physiology (medical),Sensory Systems,Ophthalmology

Reference16 articles.

1. Chandra B, Tung ML, Hsu Y, Scheetz T, Sheffield VC (2022) Retinal ciliopathies through the lens of Bardet-Biedl syndrome: past, present and future. Prog Retin Eye Res 89:101035. https://doi.org/10.1016/j.preteyeres.2021.101035

2. Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H (2007) Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet 80:1–11. https://doi.org/10.1086/510256

3. Niederlova V, Modrak M, Tsyklauri O, Huranova M, Stepanek O (2019) Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes. Hum Mutat 40:2068–2087. https://doi.org/10.1002/humu.23862

4. Hirano M, Satake W, Ihara K, Tsuge I, Kondo S, Saida K, Betsui H, Okubo K, Sakamoto H, Ueno S, Ikuno Y, Ishihara R, Iwahashi H, Ohishi M, Mano T, Yamashita T, Suzuki Y, Nakamura Y, Kusunoki S, Toda T (2015) The first nationwide survey and genetic analyses of Bardet-Biedl syndrome in Japan. PLoS One 10:e0136317. https://doi.org/10.1371/journal.pone.0136317

5. Hirano M, Satake W, Moriyama N, Saida K, Okamoto N, Cha PC, Suzuki Y, Kusunoki S, Toda T (2020) Bardet-Biedl syndrome and related disorders in Japan. J Hum Genet 65:847–853. https://doi.org/10.1038/s10038-020-0778-y

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