In search of triallelism in Bardet-Biedl syndrome

European Journal of Human Genetics

Volumn 20, Issue 4, 2012, Pages 420-427

  Abu Safieh, Leen ^a   Al Anazi, Shamsa ^a   Al Abdi, Lama ^a   Hashem, Mais ^a   Alkuraya, Hisham ^a,b   Alamr, Mushari ^a   Sirelkhatim, Mugtaba O ^a   Al Hassnan, Zuhair ^a,c   Alkuraya, Basim ^a   Mohamed, Jawahir Y ^a   Al Salem, Ahmad ^a   Alrashed, May ^a   Faqeih, Eissa ^d   Softah, Ameen ^d   Al Hashem, Amal ^e   Wali, Sami ^e   Rahbeeni, Zuhair ^a   Alsayed, Moeen ^a   Khan, Arif O ^a,b   Al Gazali, Lihadh ^f   Taschner, Peter E M ^g   Al Hazzaa, Selwa ^a   Alkuraya, Fowzan S ^a,c,h   more..

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

^d KING FAHAD MEDICAL CITY   (Saudi Arabia)

^e The General Directorate of Armed Forces Health Services   (Saudi Arabia)

^f UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^g LEIDEN UNIVERSITY   (Netherlands)

^h KING SAUD UNIVERSITY   (Saudi Arabia)

Author keywords

epistasis; modifiers; oligogenic; penetrance

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BARDET BIEDL SYNDROME; GENE MUTATION; GENETIC HETEROGENEITY; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

ALLELES; BARDET-BIEDL SYNDROME; CELL CYCLE PROTEINS; COHORT STUDIES; FAMILY; GENES, MODIFIER; HUMANS; MALE;

EID: 84858342806     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.205     Document Type: Article

References (44)

1. Harnett JD, Green JS, Cramer BC et al: The spectrum of renal disease in Laurence-Moon-Biedl syndrome. N Engl J Med 1988; 319: 615-618.
2. Green JS, Parfrey PS, Harnett JD et al: The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 1989; 321: 1002-1009.
3. Bardet G: On congenital obesity syndrome with polydactyly and retinitis pigmentosa (a contribution to the study of clinical forms of hypophyseal obesity). 1920. Obes Res 1995; 3: 387-399.
4. Biedl A: A pair of siblings with adiposo-genital dystrophy. 1922. Obes Res 1995; 3: 404.
5. Tobin JL, Beales PL: The nonmotile ciliopathies. Genet Med 2009; 11: 386-402.
6. Pedersen LB, Veland IR, Schroder JM, Christensen ST: Assembly of primary cilia. Dev Dyn 2008; 237: 1993-2006.
7. 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.
8. Blacque OE, Reardon MJ, Li C et al: Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes Dev 2004; 18: 1630-1642.
9. 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.
10. Kulaga HM, Leitch CC, Eichers ER et al: Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet 2004; 36: 994-998.
11. 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.
12. 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.
13. Nishimura DY, Fath M, Mullins RF et al: Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. Proc Natl Acad Sci USA 2004; 101: 16588-16593.
14. Fath MA, Mullins RF, Searby C et al: Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Hum Mol Genet 2005; 14: 1109-1118.
15. 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.
16. Yen HJ, Tayeh MK, Mullins RF, Stone EM, Sheffield VC, Slusarski DC: Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Hum Mol Genet 2006; 15: 667-677.
17. Tayeh MK, Yen HJ, Beck JS et al: Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning. Hum Mol Genet 2008; 17: 1956-1967.
18. Davis RE, Swiderski RE, Rahmouni K et al: A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proc Natl Acad Sci USA 2007; 104: 19422-19427.
19. Zaghloul NA, Liu Y, Gerdes JM 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.
20. Badano JL, Leitch CC, Ansley SJ et al: Dissection of epistasis in oligogenic Bardet- Biedl syndrome. Nature 2006; 439: 326-330.
21. Eichers ER, Lewis RA, Katsanis N, Lupski JR: Triallelic inheritance: A bridge between Mendelian and multifactorial traits. Ann Med 2004; 36: 262-272.
22. 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.
23. 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.
24. 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.
25. Katsanis N, Ansley SJ, Badano JL et al: Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 2001; 293: 2256-2259.
26. Nakane T, Biesecker LG: No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome. Am J Med Genet A 2005; 138: 32-34.
27. Hichri H, Stoetzel C, Laurier V et al: Testing for triallelism: Analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet 2005; 13: 607-616.
28. 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.
29. 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.
30. 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.
31. Mulvihill JJ: Craniofacial syndromes: No such thing as a single gene disease. Nat Genet 1995; 9: 101-103.
32. Alper JS: Genetic complexity in single gene diseases. BMJ 1996; 312: 196-197.
33. Aldahmesh MA, Abu-Safieh L, Khan AO et al: Allelic heterogeneity in inbred populations: The Saudi experience with Alstrom syndrome as an illustrative example. Am J Med Genet A 2009; 149A: 662-665.
34. 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: 437-446.
35. Nannya Y, Sanada M, Nakazaki K et al: A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res 2005; 65: 6071-6079.
36. 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.
37. 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.
38. Aldahmesh MA, Safieh LA, Alkuraya H et al: Molecular characterization of retinitis pigmentosa in Saudi Arabia. Mol Vis 2009; 15: 2464-2469.
39. Spaggiari E, Salati R, Nicolini P, Borgatti R, Pozzoli U, Polenghi F: Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl syndrome. Int Ophthalmol 1999; 23: 61-67.
40. Alkuraya FS: Homozygosity mapping: One more tool in the clinical geneticist's toolbox. Genet Med 2010; 12: 236-239.
41. Shaheen R, Al-Dirbashi OY, Al-Hassnan ZN et al: Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs. Clin Genet 2011; 79: 60-70.
42. Stoetzel C, Laurier V, Davis EE et al: BBS10 encodes a vertebrate-specific chaperoninlike protein and is a major BBS locus. Nat Genet 2006; 38: 521-524.
43. Leitch CC, Zaghloul NA, Davis EE et al: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet 2008; 40: 443-448.
44. Janssen S, Ramaswami G, Davis EE et al: Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. Hum Genet 2011; 129: 79-90.