Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing

REFERENCES

• 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 Mar;127(5):583–593.
   Google Scholar
• Billingsley G, Bin J, Fieggen KJ, Duncan JL, 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 Jul;47(7):453–463.
   PubMedGoogle Scholar
• Marshall JD, Bronson RT, Collin GB, et al. New Alstrom syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med 2005;165:675–683.
   PubMed Web of Science ®Google Scholar
• Beales PL, Elcioglu N, Woolf AS, et al. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 1999;36:437–446.
   PubMed Web of Science ®Google Scholar
• Héon E, Westall C, Carmi R, et al. Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. Am J Med Genet A 2005;132A(3):283–287.
   Google Scholar
• Hoffman JD, Jacobson Z, Young TL, et al. Familial variable expression of dilated cardiomyopathy in Alstrom syndrome: a report of four sibs. Am J Med Genet A 2005;135:96–98.
   Google Scholar
• Titomanlio L, De Brasi D, Buoninconti A, et al. Alstrom syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene. Clin Genet 2004;65:156–157.
   Google Scholar
• Badano JL, Ansley SJ, Leitch CC, et al. Identification of a novel Bardet–Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet 2003;72:650–658.
   PubMedGoogle Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Li JB, Gerdes JM, Haycraft CJ, et al. Comparative genomics identifies a Xagellar and basal body proteome that includes the BBS5 human disease gene. Cell 2004;117:541–552.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMedGoogle Scholar
• Nishimura DY, Swiderski RE, Searby CC, et al. Comparative genomics and gene expression analysis identiWes BBS9, a new Bardet–Biedl syndrome gene. Am J Hum Genet 2005;77:1021–1033.
   PubMedGoogle Scholar
• Slavotinek AM, Stone EM, Mykytyn K, et al. Mutations in MKKS cause Bardet–Biedl syndrome. Nat Genet 2000;26:15–16.
   PubMed Web of Science ®Google Scholar
• 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(5):521–524.
   Google Scholar
• Stoetzel C, Muller J, Laurier V, et al. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet–Biedl syndrome. Am J Hum Genet 2007;80(1):1–11.
   Google Scholar
• Otto EA, Hurd TW, Airik R, et al. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet 2010 Oct;42(10):840–850.
   PubMedGoogle Scholar
• Collin GB, Marshall JD, Ikeda A, et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. Nat Genet 2002;31:74–8.
   PubMed Web of Science ®Google Scholar
• Hearn T, Renforth GL, Spalluto C, et al. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nat Genet 2002;31:79–83.
   PubMed Web of Science ®Google Scholar
• Marshall JD, Beck S, Maffei P, Naggert JK. Alström Syndrome. Eur J Hum Genet 2007;15:1193–202.
   PubMed Web of Science ®Google Scholar
• Badano JL, Mitsuma N, Beales PL, Katsanis N. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 2006;7:125–148
   PubMed Web of Science ®Google Scholar
• Adams NA, Awadein A, Toma HS. The retinal ciliopathies. Ophthalmic Genet 2007 Sep;28(3):113–125.
   Google Scholar
• Li G, Vega R, Nelms K, et al. A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. PLoS Genet 2007;3:e8.
   PubMed Web of Science ®Google Scholar
• Hearn T, Spalluto C, Phillips VJ, et al. Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. Diabetes 2005;54:1581–1587.
   PubMed Web of Science ®Google Scholar
• Russell-Eggitt I, Clayton P, Coffey R. Alström syndrome. Ophthamology 1998;105:1274–1280.
   PubMed Web of Science ®Google Scholar
• Azari AA, Aleman TS, Cideciyan AV, et al. Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. Invest Ophthalmol Vis Sci 2006;47:5004–5010.
   PubMed Web of Science ®Google Scholar
• Riise R, Andreasson S. Tomqvist K. Full-field electroretinograms in individuals with the Laurence-Mood-Bardet-Biedl syndrome. Acta Ophthalmol Scand 1996;74:618–620.
   PubMedGoogle Scholar
• Marion V, Stoetzel C, Schlicht D, et al. Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Proc Natl Acad Sci USA 2009;106:1820–1825.
   PubMedGoogle Scholar
• Huang-Doran I, Semple RK. Knockdown of the Alström syndrome-associated gene Alms1 in 3T3-L1 preadipocytes impairs adipogenesis but has no effect on cell-autonomous insulin action. Int J Obes (Lond) 2010;34(10):1554–1558.
   Google Scholar
• Tobin JL, Di Franco M, Eichers E, et al. Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung’s disease in Bardet-Biedl syndrome. Proc Natl Acad Sci USA 2008;105:6714–6719.
   PubMedGoogle Scholar
• Amiel J, Sproat-Emison E, Garcia-Barcelo M, et al. Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet 2008;45:1–14.
   PubMed Web of Science ®Google Scholar
• 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;16(33):13921–13926.
   Google Scholar
• Joy T, Cao H, Black G, et al. Alstrom syndrome (OMIM 203800): a case report and literature review. Orphanet J Rare Dis 2007 Dec 21;2:49.
   PubMed Web of Science ®Google Scholar
• Marshall JD, Hinman EG, Collin GB, et al. Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. Hum Mutat 2007;28(11):1114–1123.
   Google Scholar