Bardet-biedl syndrome: A study of the renal and cardiovascular phenotypes in a French cohort

Clinical Journal of the American Society of Nephrology

Volumn 6, Issue 1, 2011, Pages 22-29

  Imhoff, Olivier ^a   Marion, Vincent ^c   Stoetzel, Corinne ^c   Durand, Myriam ^b   Holder, Muriel ^d   Sigaudy, Sabine ^e   Sarda, Pierre ^f   Hamel, Christian P ^f   Brandt, Christian ^b   Dollfus, Hélène ^b,c   Moulin, Bruno ^a  

^a HÔPITAL CIVIL   (France)

^b UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^c INSERM   (France)

^d UNIV LILLE   (France)

^e TIMONE HOSPITAL   (France)

^f MONTPELLIER UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BARDET BIEDL SYNDROME; CARDIOVASCULAR DISEASE; CLINICAL ARTICLE; COHORT ANALYSIS; DIABETES MELLITUS; FEMALE; FRANCE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERLIPIDEMIA; HYPERTENSION; INTERSTITIAL NEPHRITIS; KIDNEY DISEASE; KIDNEY FUNCTION; MALE; METABOLIC DISORDER;

EID: 79251489499     PISSN: 15559041     EISSN: 1555905X     Source Type: Journal    
DOI: 10.2215/CJN.03320410     Document Type: Article

References (28)

1. 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 36: 437-446, 1999
2. Tobin JL, Beales PL: Bardet-Biedl syndrome: Beyond the cilium. Pediatr Nephrol 22: 926-936, 2007
3. Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK: A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 129: 1201-1213, 2007
4. Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H: Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-pecific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet 80: 1-11, 2007
5. Blacque OE, Leroux MR: Bardet-Biedl syndrome: An emerging pathomechanism of intracellular transport. Cell Mol Life Sci 63: 2145-2161, 2006
6. Fischer E, Legue E, Doyen A, Nato F, Nicolas JF, Torres V, Yaniv M, Pontoglio M: Defective planar cell polarity in polycystic kidney disease. Nat Genet 38: 21-23, 2006
7. Ross AJ, May-Simera H, Eichers ER, Kai M, Hill J, Jagger DJ, Leitch CC, Chapple JP, Munro PM, Fisher S, Tan PL, Phillips HM, Leroux MR, Henderson DJ, Murdoch JN, Copp AJ, Eliot MM, Lupski JR, Kemp DT, Dollfus H, Tada M, Katsanis N, Forge A, Beales PL: Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet 37: 1135-1140, 2005
8. Eichers ER, Abd-El-Barr MM, Paylor R, Lewis RA, Bi W, Lin X, Meehan TP, Stockton DW, Wu SM, Lindsay E, Justice MJ, Beales PL, Katsanis N, Lupski JR: Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity. Hum Genet 120: 211-226, 2006
9. Fath MA, Mullins RF, Searby C, Nishimura DY, Wei J, Rahmouni K, Davis RE, Tayeh MK, Andrews M, Yang B, Sigmund CD, Stone EM, Sheffield VC: Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Hum Mol Genet 14: 1109-1118, 2005
10. Mykytyn K, Mullins RF, Andrews M, Chiang AP, Swiderski RE, Yang B, Braun T, Casavant T, Stone EM, Sheffield VC: Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Proc Natl Acad Sci U S A 101: 8664-8669, 2004
11. Nishimura DY, Fath M, Mullins RF, Searby C, Andrews M, Davis R, Andorf JL, Mykytyn K, Swiderski RE, Yang B, Carmi R, Stone EM, Sheffield VC: Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. Proc Natl Acad Sci U S A 101: 16588-16593, 2004
12. Hearn T, Spalluto C, Phillips VJ, Renforth GL, Copin N, Hanley NA, Wilson DI: Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. Diabetes 54: 1581-1587, 2005
13. Anadoliiska A, Roussinov D: Clinical aspects of renal involvement in Bardet-Biedl syndrome. Int Urol Nephrol 25: 509-514, 1993
14. Harnett JD, Green JS, Cramer BC, Johnson G, Chafe L, McManamon P, Farid NR, Pryse-Phillips W, Parfrey PS: The spectrum of renal disease in Laurence-Moon-Biedl syndrome. N Engl J Med 319: 615-618, 1988
15. Elbedour K, Zucker N, Zalzstein E, Barki Y, Carmi R: Cardiac abnormalities in the Bardet-Biedl syndrome: Echocardiographic studies of 22 patients. Am J Med Genet 52: 164-169, 1994
16. Iannello S, Bosco P, Cavaleri A, Camuto M, Milazzo P, Belfiore F: A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty. Obes Rev 3: 123-135, 2002
17. Katsanis N: The oligogenic properties of Bardet-Biedl syndrome. Hum Mol Genet 13 Spec No 1: R65-R71, 2004
18. Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, Stefanelli M, Murphy C, Cramer BC, Dean JC, Beales PL, Katsanis N, Bassett AS, Davidson WS, Parfrey PS: 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
19. Levey AS, Bosch JP, Lewis JB, Greene T, Rogers N, Roth D: A more accurate method to estimate glomerular filtration rate from serum creatinine: A new prediction equation. Modification of Diet in Renal Disease Study Group. Ann Intern Med 130: 461-470, 1999
20. Levey AS, Eckardt KU, Tsukamoto Y, Levin A, Coresh J, Rossert J, De Zeeuw D, Hostetter TH, Lameire N, Eknoyan G: Definition and classification of chronic kidney disease: A position statement from Kidney Disease: Improving Global Outcomes (KDIGO). Kidney Int 67: 2089-2100, 2005
21. Lang RM, Bierig M, Devereux RB, Flachskampf FA, Foster E, Pellikka PA, Picard MH, Roman MJ, Seward J, Shanewise JS, Solomon SD, Spencer KT, Sutton MS, Stewart WJ: Recommendations for chamber quantification: A report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology. J Am Soc Echocardiogr 18: 1440-1463, 2005
22. Balkau B, Charles MA, Drivsholm T, Borch-Johnsen K, Wareham N, Yudkin JS, Morris R, Zavaroni I, van Dam R, Feskins E, Gabriel R, Diet M, Nilsson P, Hedblad B: Frequency of the WHO metabolic syndrome in European cohorts, and an alternative definition of an insulin resistance syndrome. Diabetes Metab 28: 364-376, 2002
23. Hichri H, Stoetzel C, Laurier V, Caron S, Sigaudy S, Sarda P, Hamel C, Martin-Coignard D, Gilles M, Leheup B, Holder M, Kaplan J, Bitoun P, Lacombe D, Verloes A, Bonneau D, Perrin-Schmitt F, Brandt C, Besancon AF, Mandel JL, Cossee M, Dollfus H: Testing for triallelism: Analysis of six BBS genes in a Bardet- Biedl syndrome family cohort. Eur J Hum Genet 13: 607-616, 2005
24. O'Dea D, Parfrey PS, Harnett JD, Hefferton D, Cramer BC, Green J: The importance of renal impairment in the natural history of Bardet-Biedl syndrome. Am J Kidney Dis 27: 776-783, 1996
25. Webb MP, Dicks EL, Green JS, Moore SJ, Warden GM, Gamberg JS, Davidson WS, Young TL, Parfrey PS: Autosomal recessive Bardet-Biedl syndrome: First-degree relatives have no predisposition to metabolic and renal disorders. Kidney Int 76: 215-223, 2009
26. Churchill DN, McManamon P, Hurley RM: Renal disease-a sixth cardinal feature of the Laurence-Moon- Biedl syndrome. Clin Nephrol 16: 151-154, 1981
27. Price D, Gartner JG, Kaplan BS: Ultrastructural changes in the glomerular basement membrane of patients with Laurence-Moon-Biedl-Bardet syndrome. Clin Nephrol 16: 283-288, 1981
28. Marques-Vidal P, Ruidavets JB, Amouyel P, Ducimetiere P, Arveiler D, Montaye M, Haas B, Bingham A, Ferrieres J: Change in cardiovascular risk factors in France, 1985-1997. Eur J Epidemiol 19: 25-32, 2004