The first nationwide survey and genetic analyses of bardet-biedl syndrome in Japan

Makito Hirano, Wataru Satake, Kenji Ihara, Ikuya Tsuge, Shuji Kondo, Ken Saida, Hiroyuki Betsui, Kazuhiro Okubo, Hikaru Sakamoto, Shuichi Ueno, Yasushi Ikuno, Ryu Ishihara, Hiromi Iwahashi, Mitsuru Ohishi, Toshiyuki Mano, Toshihide Yamashita, Yutaka Suzuki, Yusaku Nakamura, Susumu Kusunoki, Tatsushi Toda

Research output: Contribution to journalArticlepeer-review

18 Citations (Scopus)


Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by central obesity, mental impairment, rod-cone dystrophy, polydactyly, hypogonadism in males, and renal abnormalities. The causative genes have been identified as BBS1-19. In Western countries, this disease is often reported, but remains undiagnosed in many patients until later in life, while only a few patients with no mutations identified have been reported in Japan. We thus conducted the first nationwide survey of BBS in Japan by sending questionnaires to 2,166 clinical departments with board-certified specialists and found 7 patients with clinically definite BBS. We performed exome analyses combined with analyses of mRNA and protein in these patients. We identified 2 novel mutations in the BBS5 gene (p. R89X and IVS7-27 T>G) in 2 sibling patients. The latter mutation that resided far from the authentic splicing site was associated with skipping of exon 8. We also found 3 previously reported mutations in the BBS2 (p.R413X and p.R480X) and BBS7 (p.C243Y) genes in 2 patients. To our knowledge, a nationwide survey of BBS has not been reported in any other country. In addition, this is the first study to identify genetic alterations in Japanese patients with BBS. Our results indicate that BBS in Japan is genetically heterogeneous and at least partly shares genetic features with BBS in other countries.

Original languageEnglish
Article numbere0136317
JournalPloS one
Issue number9
Publication statusPublished - Sept 1 2015
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • General


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