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17.04.2018 | Clinical Investigation

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

verfasst von: Kentaro Kurata, Katsuhiro Hosono, Akiko Hikoya, Akihiko Kato, Hirotomo Saitsu, Shinsei Minoshima, Tsutomu Ogata, Yoshihiro Hotta

Erschienen in: Japanese Journal of Ophthalmology | Ausgabe 4/2018

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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.

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Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet–Biedl syndrome: results of a population survey. J Med Genet. 1999;36:437–46.PubMedPubMedCentral

Esposito G, Testa F, Zacchia M, Crispo AA, Di Iorio V, Capolongo G, et al. Genetic characterization of Italian patients with Bardet–Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants. BMC Med Genet. 2017;18:10.CrossRefPubMedPubMedCentral

Klein D, Ammann F. The syndrome of Laurence–Moon–Bardet–Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies. J Neurol Sci. 1969;9:479–513.CrossRefPubMed

Daiger SD, Sullivan LS, Bowne SJ. The Retinal Information Network. The University of Texas Health Science Center, USA. http://www.sph.uth.tmc.edu/Retnet/. Accessed 27 Apr 2017.

Zaghloul NA, Katsanis N. Mechanistic insights into Bardet–Biedl syndrome, a model ciliopathy. J Clin Investig. 2009;119:428–37.CrossRefPubMedPubMedCentral

Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, et al. Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. Hum Genet. 2010;127:583–93.CrossRefPubMedPubMedCentral

Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, et al. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nature. 2006;38:521–4.

Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, et al. Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population. J Med Genet. 2010;47:453–63.CrossRefPubMed

M’hamdi O, Ouertani I, Maazoul F, Chaabouni-Bouhamed H. Prevalence of Bardet–Biedl syndrome in Tunisia. J Community Genet. 2011;2:97–9.CrossRefPubMedPubMedCentral

10.

Farag TI, Teebi AS. Bardet–Biedl and Laurence–Moon syndromes in a mixed Arab population. Clin Genet. 1988;33:78–82.CrossRefPubMed

11.

Hjortshøj TD, Grønskov K, Philp AR, Nishimura DY, Riise R, Sheffield VC, et al. Bardet–Biedl syndrome in Denmark—report of 13 novel sequence variations in six genes. Hum Mutat. 2010;31:429–36.CrossRefPubMed

12.

Woods MO, Young TL, Parfrey PS, Hefferton D, Green JS, Davidson WS. Genetic heterogeneity of Bardet–Biedl syndrome in a distinct Canadian population: evidence for a fifth locus. Genomics. 1999;55:2–9.CrossRefPubMed

13.

Nakamura F, Sasaki H, Kajihara H, Yamanoue M. Laurence–Moon–Biedl syndrome accompanied by congenital hepatic fibrosis. J Gastroenterol Hepatol. 1990;5:206–10.CrossRefPubMed

14.

Yamada K, Miura M, Miyayama H, Sakashita N, Kochi M, Ushio Y. Diffuse brainstem glioma in a patient with Laurence–Moon–(Bardet–)Biedl syndrome. Pediatr Neurosurg. 2000;33:323–7.CrossRefPubMed

15.

Tonomura Y, Hirano M, Shimada K, Asai H, Ikeda M, Kataoka H, et al. Treatable fluctuating mental impairment in a patient with Bardet–Biedl syndrome. Clin Neurol Neurosurg. 2009;111:102–4.CrossRefPubMed

16.

Hirano M, Ohishi M, Yamashita T, Ikuno Y, Iwahashi H, Mano T, et al. Abnormal cystatin C levels in two patients with Bardet–Biedl syndrome. Clin Med Insights Case Rep. 2011;4:17–20.CrossRefPubMedPubMedCentral

17.

Saida K, Inaba Y, Hirano M, Satake W, Toda T, Suzuki Y, et al. A case of Bardet–Biedl syndrome complicated with intracranial hypertension in a Japanese child. Brain Dev. 2014;36:721–4.CrossRefPubMed

18.

Hirano M, Satake W, Ihara K, Tsuge I, Kondo S, Saida K, et al. The first nationwide survey and genetic analyses of Bardet–Biedl syndrome in Japan. PLoS One. 2015;10:e0136317.CrossRefPubMedPubMedCentral

19.

Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M. ISCEV Standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol. 2009;118:69–77.CrossRefPubMed

20.

Li H. Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM. 2013. arXiv:1303.3997v2. Preprint at http://arxiv.org/pdf/1303.3997.pdf.

21.

McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A. The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20:1297–303.CrossRefPubMedPubMedCentral

22.

Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38:e164.CrossRefPubMedPubMedCentral

23.

The 1000 Genomes Project data. In: The 1000 Genomes Project Consortium. http://www.1000genomes.org/. Accessed 27 Apr 2017.

24.

ExAC database. In: The Exome Aggregation Consortium. http://exac.broadinstitute.org/. Accessed 27 Apr 2017.

25.

Higasa K, Miyake N, Yoshimura J. Human genetic variation database. Kyoto University, Japan. http://www.genome.med.kyoto-u.ac.jp/SnpDB/. Accessed 27 Apr 2017.

26.

Integrative Japanese Genome Variation Database. Tohoku University, Japan. https://ijgvd.megabank.tohoku.ac.jp/. Accessed 27 Apr 2017.

27.

The Human Gene Mutation Database. Institute of Medical Genetics in Cardiff. http://www.hgmd.cf.ac.uk/ac/index.php. Accessed 27 Apr 2017.

28.

Katagiri S, Akahori M, Sergeev Y, Yoshitake K, Ikeo K, Furuno M, et al. Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa. PLoS One. 2014;9:e108721.CrossRefPubMedPubMedCentral

29.

Hosono K, Harada Y, Kurata K, Hikoya A, Sato M, Minoshima S, et al. Novel GUCY2D gene mutations in Japanese male twins with Leber congenital amaurosis. J Ophthalmol. 2015;693468. https://doi.org/10.1155/2015/693468.PubMedPubMedCentralCrossRef

30.

Miyamichi D, Asahina M, Nakajima J, Sato M, Hosono K, Nomura T, et al. Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. J Hum Genet. 2016;61:839–42.CrossRefPubMed

31.

Sorting Tolerant From Intolerant. In: J. Craig Venter Institute. http://sift.jcvi.org/www/SIFT_seq_submit2.html. Accessed 27 Apr 2017.

32.

Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248–9.CrossRefPubMedPubMedCentral

33.

Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014;11:361–2.CrossRefPubMed

34.

Hosono K, Ishigami C, Takahashi M, Park DH, Hirami Y, Nakanishi H, et al. Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population. PLoS One. 2012;7:e31036.CrossRefPubMedPubMedCentral

35.

Hosono K, Sasaki T, Minoshima S, Shimizu N. Identification and characterization of a novel gene family YPEL in a wide spectrum of eukaryotic species. Gene. 2004;340:31–43.CrossRefPubMed

36.

NCBI Reference Sequence Database. In: National Center for Biotechnology Information, USA. https://www.ncbi.nlm.nih.gov/refseq/. Accessed 27 Apr 2017.

37.

Scheidecker S, Hull S, Perdomo Y, Studer F, Pelletier V, Muller J, et al. Predominantly cone-system dysfunction as rare form of retinal degeneration in patients with molecularly confirmed Bardet–Biedl syndrome. Am J Ophthalmol. 2015;160:364–72.CrossRefPubMed

38.

Hentze MW, Kulozik AE. A perfect message: RNA surveillance and nonsense-mediated decay. Cell. 1999;96:307–10.CrossRefPubMed

39.

Chang YF, Imam JS, Wilkinson MF. The nonsense-mediated decay RNA surveillance pathway. Annu Rev Biochem. 2007;76:51–74.CrossRefPubMed

40.

Agha Z, Iqbal Z, Azam M, Hoefsloot LH, van Bokhoven H, Qamar R. A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet–Biedl syndrome in a Pakistani family. Gene. 2013;519:177–81.CrossRefPubMed

41.

Gerth C, Zawadzki RJ, Werner JS, Héon E. Retinal morphology in patients with BBS1 and BBS10 related Bardet–Biedl syndrome evaluated by Fourier-domain optical coherence tomography. Vis Res. 2008;48:392–9.CrossRefPubMed

42.

Tica I, Tica OS, Nicoară AD, Tica VI, Tica AA. Ovarian teratomas in a patient with Bardet–Biedl syndrome, a rare association. Romanian J Morphol Embryol. 2016;57:1403–8.

43.

Simons DL, Boye SL, Hauswirth WW, Wu SM. Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet–Biedl syndrome mouse model. Proc Natl Acad Sci USA. 2011;108:6276–81.CrossRefPubMedPubMedCentral

44.

Seo S, Mullins RF, Dumitrescu AV, Bhattarai S, Gratie D, Wang K, et al. Subretinal gene therapy of mice with Bardet–Biedl syndrome type 1. Invest Ophthalmol Vis Sci. 2013;54:6118–32.CrossRefPubMedPubMedCentral

Titel: Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations
verfasst von: Kentaro Kurata
Katsuhiro Hosono
Akiko Hikoya
Akihiko Kato
Hirotomo Saitsu
Shinsei Minoshima
Tsutomu Ogata
Yoshihiro Hotta
Publikationsdatum: 17.04.2018
Verlag: Springer Japan
Erschienen in: Japanese Journal of Ophthalmology / Ausgabe 4/2018
Print ISSN: 0021-5155
Elektronische ISSN: 1613-2246
DOI: https://doi.org/10.1007/s10384-018-0591-8

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

Abstract

Purpose

Patient and methods

Results

Conclusion

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Springer Medizin

Abstract

Purpose

Patient and methods

Results

Conclusion

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