BBS mutational analysis: A strategic approach

Ophthalmic Genetics

Volumn 32, Issue 3, 2011, Pages 181-187

  Billingsley, Gail ^a   Deveault, Catherine ^a   Héon, Elise ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Bardet Biedl syndrome; mutational analysis; strategy

Indexed keywords

ALLELE; ARL6 GENE; ARTICLE; BARDET BIEDL SYNDROME; BBS1 GENE; BBS10 GENE; BBS12 GENE; BBS2 GENE; BBS4 GENE; BBS5 GENE; BBS7 GENE; BBS9 GENE; ETHNICITY; GENE; GENE DELETION; GENE LOCUS; GENE MAPPING; GENETIC SCREENING; HUMAN; INDEL MUTATION; MISSENSE MUTATION; MKKS GENE; MUTANT; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TRIM32 GENE; TTC8 GENE;

ALLELES; BARDET-BIEDL SYNDROME; DNA MUTATIONAL ANALYSIS; GENOTYPE; HUMANS; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS;

EID: 80051754838     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2011.567319     Document Type: Article

References (48)

1. Deveault C, Billingsley G, Duncan JL, et al. BBS genotypephenotype assessment of a multi-ethnic patient cohort calls for a revision of the disease definition. Human Mutation 2011; Epub Feb 22.
2. Muller J, Stoetzel C, Vincent MC, 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;127:583-593.
3. Otto EA, Hurd TW, Airik R, et al. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinalrenal ciliopathy. Nat Genet 2010;42:840-850.
4. Billingsley G, Bin J, Fieggen KJ, 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;47:453-463.
5. Bin J, Madhavan J, Ferrini W, et al. BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. Hum Mutat 2009;30:E737-746.
6. Heon E, Greenberg A, Kopp KK, et al. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet 2002;11:1029-1036. (Pubitemid 34521084)
7. Badano JL, Leitch CC, Ansley SJ, et al. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature 2006;439:326-330. (Pubitemid 43128856)
8. Katsanis N, Ansley SJ, Badano JL, et al. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 2001;293:2256-2259. (Pubitemid 32900235)
9. Beales PL, Badano JL, Ross AJ, 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. (Pubitemid 36530006)
10. Hjortshoj TD, 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 2009;93:409-413.
11. Innes AM, Boycott KM, Puffenberger EG, et al. A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders. Clin Genet 2010;78:424-431.
12. Chiang AP, Beck JS, Yen HJ, et al. Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc Natl Acad Sci USA 2006;103:6287-6292.
13. Stoetzel C, Muller J, Laurier V, et al. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebratespecific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet 2007;80:1-11. (Pubitemid 46047645)
14. Pereiro I, Hoskins BE, Marshall JD, et al. Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alstrom syndrome. Eur J Hum Genet 2011;19:485-488.
15. Smaoui N, Chaabouni M, Sergeev YV, et al. Screening of the eight BBS genes in Tunisian families: no evidence of triallelism. Invest Ophthalmol Vis Sci 2006;47:3487-3495. (Pubitemid 351639715)
16. Abu Safieh L, Aldahmesh MA, Shamseldin 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.
17. Harville HM, Held S, Diaz-Font A, et al. Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. J Med Genet 2010;47:262-267.
18. Pereiro I, Valverde D, Pineiro-Gallego T, et al. New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping. Mol Vis 2010;16:137-143.
19. Zaghloul NA, Katsanis N. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest 2009;119:428-437.
20. Laurier V, Stoetzel C, Muller J, et al. Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. Eur J Hum Genet 2006;14:1195-1203. (Pubitemid 44642585)
21. Gerth C, Zawadzki RJ, Werner JS, Heon E. Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. Vision Res 2008;48:392-399. (Pubitemid 351179518)
22. Mykytyn K, Nishimura DY, Searby CC, et al. Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet 2003;72:429-437. (Pubitemid 36194250)
23. Mykytyn K, Nishimura DY, Searby CC, et al. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet 2002;31:435-438. (Pubitemid 35154457)
24. Fauser S, Munz M, Besch D. Further support for digenic inheritance in Bardet-Biedl syndrome. J Med Genet 2003;40:e104.
25. Hjortshoj TD, Gronskov K, Philp AR, et al. Bardet-Biedl syndrome in Denmark? report of 13 novel sequence variations in six genes. Hum Mutat 2010;31:429-436.
26. Karmous-Benailly H, Martinovic J, Gubler MC, et al. Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet 2005;76:493-504. (Pubitemid 40250528)
27. Moore SJ, Green JS, Fan Y, 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 2005;132:352-360. (Pubitemid 40175583)
28. Nishimura DY, Searby CC, Carmi R, et al. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Mol Genet 2001;10:865-874. (Pubitemid 32331597)
29. Badano JL, Kim JC, Hoskins BE, et al. Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Hum Mol Genet 2003;12:1651-1659. (Pubitemid 36896658)
30. Fan Y, Esmail MA, Ansley SJ, et al. Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Nat Genet 2004;36:989-993. (Pubitemid 39167496)
31. Chiang AP, Nishimura D, Searby C, et al. Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). Am J Hum Genet 2004;75:475-484. (Pubitemid 39095822)
32. Katsanis N, Eichers ER, Ansley SJ, et al. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Am J Hum Genet 2002;71:22-29. (Pubitemid 34734704)
33. Mykytyn K, Braun T, Carmi R, et al. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat Genet 2001;28:188-191. (Pubitemid 32538068)
34. Nishimura DY, Swiderski RE, Searby CC, et al. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am J Hum Genet 2005;77:1021-1033. (Pubitemid 41698522)
35. de Pontual L, Zaghloul NA, Thomas S, et al. Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proc Natl Acad Sci USA 2009;106:13921-13926.
36. Li JB, Gerdes JM, Haycraft CJ, et al. Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell 2004;117:541-552. (Pubitemid 38610238)
37. Hjortshoj TD, Gronskov K, Philp AR, et al. Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients. Am J Med Genet A 2008;146A:517-520. (Pubitemid 351206829)
38. Stone DL, Slavotinek A, Bouffard GG, et al. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat Genet 2000;25:79-82. (Pubitemid 30257041)
39. Katsanis N, Beales PL, Woods MO, et al. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet 2000;26:67-70.
40. Slavotinek AM, Stone EM, Mykytyn K, et al. Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet 2000;26:15-16.
41. Slavotinek AM, Searby C, Al-Gazali L, et al. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Hum Genet 2002;110:561-567. (Pubitemid 36075005)
42. Yang Z, Yang Y, Zhao P, et al. A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family. Mol Vis 2008;14:2304-2308.
43. Ansley SJ, Badano JL, Blacque OE, et al. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 2003;425:628-633. (Pubitemid 37280147)
44. Stoetzel C, Laurier V, Davis EE, et al. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet 2006;38:521-524.
45. Putoux A, Mougou-Zerelli S, Thomas S, et al. BBS10 mutations are common in Meckel-type cystic kidneys. J Med Genet 2010;47:848-852.
46. Stoetzel C, Laurier V, Faivre L, et al. BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. J Hum Genet 2006;51:81-84. (Pubitemid 43162255)
47. White DR, Ganesh A, Nishimura D, et al. Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10. Eur J Hum Genet 2007;15:173-178. (Pubitemid 46111855)
48. Pawlik B, Mir A, Iqbal H, et al. A novel familial BBS12 mutation associated with a mild phenotype: implications for clinical and molecular diagnostic strategies. Mol Syndromol 2010;1:27-34.