Bardet–Biedl Syndrome
https://doi.org/10.21508/1027-4065-2020-65-6-76-83
Abstract
The Bardet–Biedl syndrome is a rare autosomal recessive disease of the group of ciliopathies with polymorphic clinical symptoms including the retinal degeneration, obesity, polydactyly, mental retardation, hypogonadism, and renal dysfunction. The Pleiotropic effects are caused by the defects in genes encoding the proteins responsible for the functioning of cilia. The Article addresses the issues of the clinical features, diagnosis, differential diagnosis and treatment of this disease. The clinical case demonstrates the patient with Bardet–Biedl syndrome, manifested by the retinal degeneration, obesity, brachydactylia, syndactyly and clinodactyly, hypogenitalism, mental retardation and concomitant hypothyroidism. As per results of the molecular genetic testing, the child was found having the mutations in exon 2 of BBS10 gene c.271dupT and c.583G> A (p.G180E) in the compound heterozygous condition, inherited from the father and mother, respectively, that are the healthy carriers.
About the Authors
E. A. Potrokhova
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Moscow
Russian Federation
Moscow
M. L. Babayan
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Moscow
Russian Federation
Moscow
L. S. Baleva
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Moscow
Russian Federation
Moscow
M. P. Safonova
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Moscow
Russian Federation
Moscow
A. E. Sipyagina
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Moscow
Russian Federation
Moscow
References
1. Laurence J.Z., Moon R.C. Four cases of ‘retinitis pigmentosa’ occurring in the same family, and accompanied by general imperfections of development. Obes Res 1995; 3: 400–403. DOI: 10.1002/j.1550-8528.1995.tb00166.x
2. Bardet G. On congenital obesity syndrome with polydactyly and retinitis pigmentosa (a contribution to the study of clinical forms of hypophyseal obesity). Obes Res 1995; 3: 387–399. DOI: 10.1002/j.1550-8528.1995.tb00165.x
3. Biedl A. A pair of siblings with adiposo-genital dystrophy.1922. Obes Res 1995; 3: 404. DOI:10.1002/j.1550-8528.1995.tb00167.x
4. Abdulla A.B., Niloy A.A., Shah T.A., Biswas S.K., Imran A.K., Murshed K.M. et al. Laurence Moon Bardet Biedl syndrome. Mymensingh Med J 2009; 18(1 Suppl): 124–128.
5. Blacque O.E., Leroux M.R. Bardet-Biedl syndrome: An emerging pathomechanism of intracellular transport. Cell Mol Life Sci 2006; 63: 2145–2161. DOI: 10.1007/s00018-006-6180-x
6. Forsythe E., Kenny J., Bacchelli C., Beales P.L. Managing Bardet–Biedl Syndrome – Now and in the Future. Front Pediatr 2018; 6(23): 1–8. DOI: 10.3389/fped.2018.00023
7. Farag T.I., Teebi A.S. High incidence of Bardet Biedl syndrome among the Bedouin. Clin Genet 1989; 36: 463–467. DOI: 10.1111/j.1399-0004.1989.tb03378.x
8. Fan Y., Rahman P., Peddle L., Hefferton D., Gladney N., Moore S.J. et al. Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population. Int J Obes Relat Metab Disord 2004; 28: 680–684. DOI: 10.1002/ajmg.a.30406
9. Cherian M.P., Al-Sanna’a N.A. Clinical spectrum of Bardet-Biedl syndrome among four Saudi Arabian families. Clin Dysmorphol 2009; 18: 188–194. DOI: 10.1097/MCD.0b013e32832e4657
10. Pearce W.G., Gillan J.G., Brosseau L. Bardet–Biedl syndrome and retinitis punctata albescens in an isolated northern Canadian community. Can J Ophthalmol 1984; 19(3): 115–118.
11. Beales P.L., Elcioglu N., Woolf A.S., Parker D., Flinter F.A. New criteria for improved diagnosis of Bardet–Biedl syndrome: Results of a population survey. J Med Genet 1999; 36: 437–446.
12. Satir P., Pedersen L.B., Christensen S.T. The primary cilium at a glance. J Cell Sci 2010; 123(4): 499–503. DOI: 10.1242/jcs.050377
13. M’hamdi O., Ouertani I., Chaabouni-Bouhamed H. Update on the genetics of bardet–biedl syndrome. Mol Syndromol 2014; 5: 51–56. DOI: 10.1159/000357054
14. Suspitsin E.N., Imyanitov E.N. Bardet–Biedl Syndrome. Mol Syndromol 2016; 7(2): 62–71. DOI: 10.1159/000445491
15. Harville H.M., Held S., Diaz-Font A., Davis E.E., Diplas B.H., Lewis R.A. et al. Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. J Med Genet 2010; 47: 262–267. DOI: 10.1136/jmg.2009.071365
16. Abu Safieh L., Aldahmesh M.A., Shamseldin H., Hashem M., Shaheen R., Alkuraya H. et al. Clinical and molecular characterisation of Bardet–Biedl syndrome in consanguineous populations: the power of homozygosity mapping. J Med Genet 2010; 47: 236–241. DOI: 10.1136/jmg.2009.070755
17. Sathya Priya C., Sen P., Umashankar V., Gupta N., Kabra M., Kumaramanickavel G. et al. Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. Clin Genet 2015; 87: 161–166. DOI: 10.1111/cge.12342
18. Mitchison H.M., Valente E.M. Motile and non-motile cilia in human pathology: from function to phenotypes. J Pathol 2017; 241(2): 294–309. DOI: 10.1002/path.4843
19. Aliferis K., Hellé S., Gyapay G., Duchatelet S., Stoetzel C., Mandel J.L. et al. Differentiating Alström from Bardet–Biedl syndrome (BBS) using systematic ciliopathy genes sequencing. Ophthalmic Genet 2012; 33: 18–22. DOI: 10.3109/13816810.2011.620055
20. Beales P.L., Badano J.L., Ross A.J., Ansley S.J., Hoskins B.E., Kirsten B. et al. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet–Biedl syndrome. Am J Hum Genet 2003; 72: 1187–1199. DOI:10.1086/375178
21. Xu L., Jiang H., Chen H., Gu Z. Genetic architecture of growth traits revealed by global epistatic interactions. Genome Biol Evol 2011; 3: 909–914. DOI: 10.1093/gbe/evr065
22. Zaghloul N.A., Liu Y., Gerdes J.M., Gascue C., Oh E.C., Leitch C.C. et al. Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet–Biedl syndrome. Proc Natl Acad Sci USA 2010; 107: 10602–10607. DOI: 10.1073/pnas.1000219107
23. Feuillan P.P., Ng D., Han J.C., Sapp J.C., Wetsch K., Spaulding E. et al. Patients with Bardet–Biedl syndrome have hyperleptinemia suggestive of leptin resistance. J Clin Endocrinol Metab 2011; 96: 528–535. DOI: 10.1210/jc.2010-2290
24. Imhoff O., Marion V., Stoetzel C., Durand M., Holder M., Sigaudy S. et al. Bardet–Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. Clin J Am Soc Nephrol 2011; 6: 22–29. DOI: 10.2215/CJN.03320410
25. Badano J.L., Leitch C.C., Ansley S.J., May-Simera H., Lawson S., Lewis R.A. et al. Dissection of epistasis in oligogenic Bardet–Biedl syndrome. Nature 2006; 439: 326–330. DOI: 10.1038/nature04370
26. Quinlan R.J., Tobin J.L., Beales P.L. Modeling Ciliopathies: Primary Cilia in Development and Disease. New York, 2008; 249–310.
27. Forsythe E., Sparks K., Best S., Borrows S.., Hoskins B, Sabir A. et al. Risk factors for severe renal disease in Bardet– Biedl syndrome. J Am Soc Nephrol 2017; 28(3): 963–970. DOI: 10.1681/ASN.2015091029
Review
For citations:
Potrokhova E.A., Babayan M.L., Baleva L.S., Safonova M.P., Sipyagina A.E. Bardet–Biedl Syndrome. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2020;65(6):76-83. (In Russ.) https://doi.org/10.21508/1027-4065-2020-65-6-76-83
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