Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: Genetic characterization and report of nine novel mutations in five BBS genes

Journal of Human Genetics

Volumn 59, Issue 7, 2014, Pages 368-375

  Fattahi, Zohreh ^a,b   Rostami, Parvin ^b   Najmabadi, Amin ^c   Mohseni, Marzieh ^a   Kahrizi, Kimia ^a   Akbari, Mohammad Reza ^a,d,e   Kariminejad, Ariana ^b,e   Najmabadi, Hossein ^a,b  

^a UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES   (Iran)

^b Zharfa Pajohesh System (ZPS) Co   (Iran)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d WOMEN S COLLEGE HOSPITAL   (Canada)

^e UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; RNA;

ADOLESCENT; ADULT; ARTICLE; BARDET BIEDL SYNDROME; BARDET BIEDL SYNDROME 1 GENE; BARDET BIEDL SYNDROME 10 GENE; BARDET BIEDL SYNDROME 12 GENE; BARDET BIEDL SYNDROME 2 GENE; BARDET BIEDL SYNDROME 3 GENE; BARDET BIEDL SYNDROME 4 GENE; BARDET BIEDL SYNDROME 6 GENE; BARDET BIEDL SYNDROME 7 GENE; BARDET BIEDL SYNDROME 9 GENE; CHILD; CLINICAL ARTICLE; CLINICAL OBSERVATION; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; EXOME; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; HUMAN; IRANIAN PEOPLE; MALE; MOLECULAR DIAGNOSTICS; NUCLEOTIDE SEQUENCE; PATIENT REFERRAL; PHENOTYPE; RARE DISEASE; AMINO ACID SEQUENCE; CONSANGUINITY; GENETICS; GENOTYPE; IRAN; MOLECULAR GENETICS; MUTATION; QUANTITATIVE TRAIT LOCUS; SEQUENCE ALIGNMENT;

AMINO ACID SEQUENCE; BARDET-BIEDL SYNDROME; BASE SEQUENCE; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; IRAN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; QUANTITATIVE TRAIT LOCI; SEQUENCE ALIGNMENT;

EID: 84905031865     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2014.28     Document Type: Article

References (52)

1. Tobin, J. L. & Beales, P. L. Bardet-Biedl syndrome: Beyond the cilium. Pediatr. Nephrol. 22, 926-936 (2007
2. Zaghloul, N. A. & Katsanis, N. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J. Clin. Invest. 119, 428-437 (2009
3. Green, J. S., Parfrey, P. S., Harnett, J. D., Farid, N. R., Cramer, B. C., Johnson, G. et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. New Engl. J. Med. 321, 1002-1009 (1989
4. Katsanis, N., Lupski, J. R. & Beales, P. L. Exploring the molecular basis of Bardet-Biedl syndrome. Hum. Mol. Genet. 10, 2293-2299 (2001
5. 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. 36, 437-446 (1999
6. Blacque, O. E. & Leroux, M. R. Bardet-Biedl syndrome: An emerging pathomechanism of intracellular transport. Cell. Mol. Life Sci. 63, 2145-2161 (2006
7. Ajmal, M., Khan, M. I., Neveling, K., Tayyab, A., Jaffar, S., Sadeque, A. et al. Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome. Mol. Vis. 19, 644-653 (2013
8. Croft, J. B., Morrell, D., Chase, C. L. & Swift, M. Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome. Am. J. Med. Genet. 55, 12-15 (1995
9. Klein, D. & Ammann, F. The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies. J. Neurol. Sci. 9, 479-513 (1969
10. M'hamdi, O., Ouertani, I., Maazoul, F. & Chaabouni-Bouhamed, H. Prevalence of Bardet-Biedl syndrome in Tunisia. J. Community Genet. 2, 97-99 (2011
11. Farag, T. I. & Teebi, A. S. High incidence of Bardet-Biedl syndrome among the Bedouin. Clin. Genet. 36, 463-464 (1989
12. Moore, S. J., Green, J. S., Fan, Y., Bhogal, A. K., Dicks, E., Fernandez, B. A. et al. Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study. Am. J. Med. Genet. A 132, 352-360 (2005
13. Hjortshoj, T. D., Gronskov, K., Brondum-Nielsen, K. & Rosenberg, T. A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands. Br. J. Ophthalmol. 93, 409-413 (2009
14. Forsythe, E. & Beales, P. L. Bardet-Biedl syndrome. Eur. J. Hum. Genet. 21, 8-13 (2013
15. Katsanis, N. The oligogenic properties of Bardet-Biedl syndrome. Hum. Mol. Genet. 13, 65-71 (2004
16. Marion, V., Stutzmann, F., Gerard, M., De Melo, C., Schaefer, E., Claussmann, A. et al. Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet-Biedl syndrome with situs inversus and insertional polydactyly. J. Med. Genet. 49, 317-321 (2012
17. Scheidecker, S., Etard, C., Pierce, N. W., Geoffroy, V., Schaefer, E., Muller, J. et al. Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). J. Med. Genet. 51, 132-136 (2014
18. Wiens, C. J., Tong, Y., Esmail, M. A., Oh, E., Gerdes, J. M., Wang, J. et al. Bardet-Biedl syndrome-Associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling. J. Biol. Chem. 285, 16218-16230 (2010
19. Zhang, Q., Yu, D., Seo, S., Stone, E. M. & Sheffield, V. C. Intrinsic protein-protein interaction-mediated and chaperonin-Assisted sequential assembly of stable Bardet-Biedl syndrome protein complex, the BBSome. J. Biol. Chem. 287, 20625-20635 (2012
20. Khan, S., Ullah, I., Irfanullah, Touseef, M., Basit, S., Khan, M N. et al. Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome. Gene 515, 84-88 (2013
21. Beales, P. L., Katsanis, N., Lewis, R. A., Ansley, S. J., Elcioglu, N., Raza, J. et al. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. Am. J. Hum. Genet. 68, 606-616 (2001
22. Pawlik, B., Mir, A., Iqbal, H., Li, Y., Nurnberg, G., Becker, C. et al. A novel familial BBS12 mutation associated with a mild phenotype: Implications for clinical and molecular diagnostic strategies. Mol. Syndromol. 1, 27-34 (2010
23. Miller, S A., Dykes, D. D. & Polesky, H. F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16, 1215 (1988
24. Neitzel, H. A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum. Genet. 73, 320-326 (1986
25. Rozen, S. & Skaletsky, H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol. Biol. 132, 365-386 (2000
26. Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P. et al. A method and server for predicting damaging missense mutations. Nat. Methods 7, 248-249 (2010
27. Kumar, P., Henikoff, S. & Ng, P. C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc. 4, 1073-1081 (2009
28. Berezin, C., Glaser, F., Rosenberg, J., Paz, I., Pupko, T., Fariselli, P et al. ConSeq: The identification of functionally and structurally important residues in protein sequences. Bioinformatics 20, 1322-1324 (2004
29. McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A et al. The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297-1303 (2010
30. Liu, X., Jian, X. & Boerwinkle, E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Hum. Mutat. 32, 894-899 (2011
31. Keren, H., Lev-Maor, G. & Ast, G. Alternative splicing and evolution: Diversification, exon definition and function. Nat. Rev. Genet. 11, 345-355 (2010
32. Stenson, P D., Mort, M., Ball, E. V., Howells, K., Phillips, A. D., Thomas, N. S. et al. The Human Gene Mutation Database: 2008 update. Genome Med. 1, 13 (2009
33. Mykytyn, K., Braun, T., Carmi, R., Haider, N. B., Searby, C. C., Shastri, M. et al. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat. Genet. 28, 188-191 (2001
34. Deveault, C., Billingsley, G., Duncan, J. L., Bin, J., Theal, R., Vincent, A. et al. BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum. Mutat. 32, 610-619 (2011
35. Slavotinek, A. & Beales, P. Clinical utility gene card for: Bardet-Biedl syndrome. Eur. J. Hum. Genet. (e-pub ahead of print 8 December 2010; doi: 10.1038/ejhg.2010.199
36. Hjortshøj, T. D., Gronskov, K., Philp, A. R., Nishimura, D. Y., Riise, R., Sheffield, V. C. et al. Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes. Hum. Mutat. 31, 429-436 (2010
37. Jin, H., White, S R., Shida, T., Schulz, S., Aguiar, M., Gygi, S. P. et al. The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. Cell 141, 1208-1219 (2010
38. Mykytyn, K., Nishimura, D. Y., Searby, C. C., Beck, G., Bugge, K., Haines, H. L. et al. Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am. J. Hum. Genet. 72, 429-437 (2003
39. Krawczak, M., Thomas, N. S., Hundrieser, B., Mort, M., Wittig, M., Hampe, J. et al. Single base-pair substitutions in exon-intron junctions of human genes: Nature, distribution, and consequences for mRNA splicing. Hum. Mutat. 28, 150-158 (2007
40. Baralle, D. & Baralle, M. Splicing in action: Assessing disease causing sequence changes. J. Med. Genet. 42, 737-748 (2005
41. Chanfreau, G F. A dual role for RNA splicing signals. EMBO Rep. 11, 720-721 (2010
42. Nagy, E. & Maquat, L. E. A rule for termination-codon position within intron-containing genes: When nonsense affects RNA abundance. Trends Biochem. Sci. 23, 198-199 (1998
43. Maquat, L. E. Nonsense-mediated mRNA decay. Curr. Biol. 12, 196-197 (2002
44. Stamm, S., Ben-Ari, S., Rafalska, I., Tang, Y., Zhang, Z., Toiber, D et al. Function of alternative splicing. Gene 344, 1-20 (2005
45. Maquat, L. E. Nonsense-mediated mRNA decay in mammals. J. Cell. Sci. 118, 1773-1776 (2005
46. Ghadami, M., Tomita, H. A., Najafi, M. T., Damavandi, E., Farahvash, M. S., Yamada, K. et al. Bardet-Biedl syndrome type 3 in an Iranian family: Clinical study and confirmation of disease localization. Am. J. Med. Genet. 94, 433-437 (2000
47. 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. 47, 236-241 (2010
48. Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S S., Chen, W. et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478, 57-63 (2011
49. Muller, J., Stoetzel, C., Vincent, M. C., Leitch, C. C., Laurier, V., Danse, J. M. 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. 127, 583-593 (2010
50. Redin, C., Le Gras, S., M'hamdi, O., Geoffroy, V., Stoetzel, C., Vincent, M. C. et al. Targeted high-Throughput sequencing for diagnosis of genetically heterogeneous diseases: Efficient mutation detection in Bardet-Biedl and Alstrom syndromes. J. Med. Genet. 49, 502-512 (2012
51. M'hamdi, O., Ouertani, I. & Chaabouni-Bouhamed, H. Update on the genetics of Bardet-Biedl syndrome. Mol. Syndromol. 5, 52-57 (2013
52. Nishimura, D. Y., Swiderski, R. E., Searby, C. C., Berg, E. M., Ferguson, A. L., Hennekam, R. et al. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am. J. Hum. Genet. 77, 1021-1033 (2005.