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Japanese Journal of Ophthalmology

, Volume 62, Issue 4, pp 458–466 | Cite as

Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations

  • Kentaro Kurata
  • Katsuhiro Hosono
  • Akiko Hikoya
  • Akihiko Kato
  • Hirotomo Saitsu
  • Shinsei Minoshima
  • Tsutomu Ogata
  • Yoshihiro Hotta
Clinical Investigation

Abstract

Purpose

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by retinal dystrophy, renal dysfunction, central obesity, mental impairment, polydactyly, and hypogonadism. Only limited information on BBS is available from Japanese patients. In addition, there are currently no reports of Japanese patients with BBS caused by BBS10 mutations. The purpose of this study was to present the characteristics of a Japanese patient with BBS caused by BBS10 mutations.

Patient and methods

The patient was a 22-year-old Japanese woman. Comprehensive ophthalmic examinations, including visual acuity measurements, perimetry, electroretinography (ERG), fundus autofluorescence imaging, and optical coherence tomography, were performed. Trio-based whole-exome sequencing was performed to identify potential pathogenic mutations, confirmed by Sanger sequencing.

Results

The patient showed neither renal malformation nor dysfunction, and visual impairment seemed to be relatively mild for BBS. The fundus examination revealed diffuse retinal degeneration without pigmentary deposits, and ERG scans showed undetectable responses. She had a history of surgically corrected polydactyly, and displayed symptoms of obesity. There was also a menstrual irregularity that could require progestin administration. Genetic analysis revealed compound heterozygous BBS10 mutations in the patient: a novel missense mutation c.98G>A [p.(G33E)], and a novel nonsense mutation c.2125A>T [p.(R709*)].

Conclusion

To our knowledge, this is the first description of a Japanese patient with BBS caused by BBS10 mutations. The clinical characteristics of our patient were mild, as neither renal impairment nor legal blindness was observed. Early diagnosis would play a role in providing counseling, and in some cases, therapeutic interventions for BBS patients.

Keywords

Bardet-Biedl syndrome BBS10 gene retinal dystrophy systemic findings 

Notes

Acknowledgements

The authors would like to thank Editage (https://www.editage.jp/) for English language editing. This work was supported by a Grant from the Initiative on Rare and Undiagnosed Diseases for Adults (no. 16ek0109151h0002) from the Japan Agency for Medical Research and Development (AMED), and the Japan Society for the Promotion of Science Grant-in-Aid for Scientific Research (no. 26462659 awarded to Y. H. and no. 16K11284 awarded to K. H.).

Conflicts of interest

K. Kurata, None; K. Hosono, None; A. Hikoya, None; A. Kato, None; H. Saitsu, None; S. Minoshima, None; T. Ogata, None; Y. Hotta, None.

Supplementary material

10384_2018_591_MOESM1_ESM.pdf (74 kb)
Supplementary material 1 (PDF 73 kb)
10384_2018_591_MOESM2_ESM.pdf (62 kb)
Supplementary material 2 (PDF 62 kb)
10384_2018_591_MOESM3_ESM.pdf (102 kb)
Supplementary material 3 (PDF 101 kb)
10384_2018_591_MOESM4_ESM.pdf (50 kb)
Supplementary material 4 (PDF 50 kb)

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Copyright information

© Japanese Ophthalmological Society 2018

Authors and Affiliations

  • Kentaro Kurata
    • 1
  • Katsuhiro Hosono
    • 1
  • Akiko Hikoya
    • 1
  • Akihiko Kato
    • 2
  • Hirotomo Saitsu
    • 3
  • Shinsei Minoshima
    • 4
  • Tsutomu Ogata
    • 5
  • Yoshihiro Hotta
    • 1
  1. 1.Department of OphthalmologyHamamatsu University School of MedicineShizuokaJapan
  2. 2.Blood Purification UnitHamamatsu University HospitalShizuokaJapan
  3. 3.Department of BiochemistryHamamatsu University School of MedicineShizuokaJapan
  4. 4.Department of Photomedical Genomics, Preeminent Medical Photonics Education and Research Center, Institute for Medical Photonics ResearchHamamatsu University School of MedicineShizuokaJapan
  5. 5.Department of PediatricsHamamatsu University School of MedicineShizuokaJapan

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