Phenotypic variability of Bardet-Biedl syndrome: Focusing on the kidney

Pediatric Nephrology

Volumn 27, Issue 1, 2012, Pages 7-15

  Putoux, Audrey ^a   Attie Bitach, Tania ^a,b   Martinovic, Jéléna ^a   Gubler, Marie Claire ^c  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c AP HP   (France)

Author keywords

"Meckel" type cystic kidney; Bardet Biedl syndrome; Ciliopathy; Genetics; Renal hypoplasia; Tubulointerstitial nephropathy

Indexed keywords

BARDET BIEDL SYNDROME; CLINICAL FEATURE; CORRELATION ANALYSIS; DIAGNOSTIC PROCEDURE; GENE INTERACTION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; IMAGE ANALYSIS; KIDNEY DISEASE; MORTALITY; NONHUMAN; PHENOTYPE; PLEIOTROPY; PRENATAL PERIOD; PRIORITY JOURNAL; REVIEW;

BARDET-BIEDL SYNDROME; CILIA; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KIDNEY; KIDNEY DISEASES; MUTATION; PHENOTYPE;

EID: 83655180783     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-010-1751-3     Document Type: Review

References (77)

1. G Bardet 1920 On congenital obesity syndrome with polydactyly and retinitis pigmentosa (a contribution to the study of clinical forms of hypophyseal obesity). Obes Res 3 387 399
2. A Biedl 1922 A pair of siblings with adiposo-genital dystrophy. 1922 Obes Res 3 404
3. JZ Laurence RC Moon 1866 (1995) Four cases of "retinitis pigmentosa" occurring in the same family, and accompanied by general imperfections of development Obes Res 3 400 403
4. TI Farag AS Teebi 1989 High incidence of Bardet Biedl syndrome among the Bedouin Clin Genet 36 463 464 2591073 10.1111/j.1399-0004.1989.tb03378.x 1:STN:280:DyaK3c%2FnsFCmtQ%3D%3D (Pubitemid 20000901)
5. JS Green PS Parfrey JD Harnett NR Farid BC Cramer G Johnson O Heath PJ McManamon E O'Leary W Pryse-Phillips 1989 The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome N Engl J Med 321 1002 1009 2779627 10.1056/NEJM198910123211503 1:STN:280:DyaL1MzosVyitg%3D%3D (Pubitemid 19253414)
6. SJ Ansley JL Badano OE Blacque J Hill BE Hoskins CC Leitch JC Kim AJ Ross ER Eichers TM Teslovich AK Mah RC Johnsen JC Cavender RA Lewis MR Leroux PL Beales N Katsanis 2003 Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome Nature 425 628 633 14520415 10.1038/nature02030 1:CAS:528:DC%2BD3sXnvV2hsLw%3D (Pubitemid 37280147)
7. NA Zaghloul N Katsanis 2009 Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy J Clin Invest 119 428 437 19252258 10.1172/JCI37041 1:CAS:528:DC%2BD1MXivF2ktrs%3D
8. K Baker PL Beales 2009 Making sense of cilia in disease: the human ciliopathies Am J Med Genet C Semin Med Genet 151C 281 295 19876933 10.1002/ajmg.c.30231 1:CAS:528:DC%2BD1MXhsFWjsbzP
9. M Fliegauf T Benzing H Omran 2007 When cilia go bad: cilia defects and ciliopathies Nat Rev Mol Cell Biol 8 880 893 17955020 10.1038/nrm2278 1:CAS:528:DC%2BD2sXhtF2qsLzI (Pubitemid 47622564)
10. JM Gerdes EE Davis N Katsanis 2009 The vertebrate primary cilium in development, homeostasis, and disease Cell 137 32 45 19345185 10.1016/j.cell.2009.03.023 1:CAS:528:DC%2BD1MXls1Srsr0%3D
11. SC Goetz KV Anderson 2010 The primary cilium: a signalling centre during vertebrate development Nat Rev Genet 11 331 344 20395968 10.1038/nrg2774 1:CAS:528:DC%2BC3cXkvVSqs74%3D
12. F Hildebrandt E Otto 2005 Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? Nat Rev Genet 6 928 940 16341073 10.1038/nrg1727 1:CAS:528:DC%2BD2MXht1yhs77L (Pubitemid 41778699)
13. P Satir ST Christensen 2007 Overview of structure and function of mammalian cilia Annu Rev Physiol 69 377 400 17009929 10.1146/annurev.physiol.69. 040705.141236 1:CAS:528:DC%2BD2sXltVaksLw%3D (Pubitemid 46457649)
14. JM Gerdes N Katsanis 2008 Ciliary function and Wnt signal modulation Curr Top Dev Biol 85 175 195 19147006 10.1016/S0070-2153(08)00807-7 1:CAS:528:DC%2BD1MXpsVensb0%3D
15. SY Wong JF Reiter 2008 The primary cilium at the crossroads of mammalian hedgehog signaling Curr Top Dev Biol 85 225 260 19147008 10.1016/S0070-2153(08) 00809-0 1:CAS:528:DC%2BD1MXpsVensbs%3D
16. H Jin MV Nachury 2009 The BBSome Curr Biol 19 R472 R473 19549489 10.1016/j.cub.2009.04.015 1:CAS:528:DC%2BD1MXnsFOqur0%3D
17. MV Nachury AV Loktev Q Zhang CJ Westlake J Peranen A Merdes DC Slusarski RH Scheller JF Bazan VC Sheffield PK Jackson 2007 A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis Cell 129 1201 1213 17574030 10.1016/j.cell.2007.03.053 1:CAS:528:DC%2BD2sXntVOnt7Y%3D (Pubitemid 46891037)
18. G Billingsley J Bin KJ Fieggen JL Duncan C Gerth K Ogata SS Wodak EI Traboulsi GA Fishman A Paterson D Chitayat T Knueppel JM Millan GA Mitchell C Deveault E Heon 2010 Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population J Med Genet 47 453 463 20472660 10.1136/jmg.2009.073205 1:CAS:528:DC%2BC3cXhtVOmur7J
19. S Seo LM Baye NP Schulz JS Beck Q Zhang DC Slusarski VC Sheffield 2010 BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly Proc Natl Acad Sci USA 107 1488 1493 20080638 10.1073/pnas.0910268107 1:CAS:528:DC%2BC3cXhslOrsro%3D
20. C Stoetzel J Muller V Laurier EE Davis NA Zaghloul S Vicaire C Jacquelin F Plewniak CC Leitch P Sarda C Hamel TJ de Ravel RA Lewis E Friederich C Thibault JM Danse A Verloes D Bonneau N Katsanis O Poch JL Mandel H Dollfus 2007 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 80 1 11 17160889 10.1086/510256 1:CAS:528: DC%2BD2sXms1Cntg%3D%3D (Pubitemid 46047645)
21. JL Tobin PL Beales 2007 Bardet-Biedl syndrome: beyond the cilium Pediatr Nephrol 22 926 936 17357787 10.1007/s00467-007-0435-0 (Pubitemid 46881909)
22. NF Berbari JS Lewis GA Bishop CC Askwith K Mykytyn 2008 Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia Proc Natl Acad Sci USA 105 4242 4246 18334641 10.1073/pnas.0711027105 1:CAS:528:DC%2BD1cXkt1Wkt7k%3D (Pubitemid 351754365)
23. V Marion C Stoetzel D Schlicht N Messaddeq M Koch E Flori JM Danse JL Mandel H Dollfus 2009 Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation Proc Natl Acad Sci USA 106 1820 1825 19190184 10.1073/pnas.0812518106 1:CAS:528:DC%2BD1MXitV2isr8%3D
24. MP Cherian NA Al-Sanna'a 2009 Clinical spectrum of Bardet-Biedl syndrome among four Saudi Arabian families Clin Dysmorphol 18 188 194 19707123 10.1097/MCD.0b013e32832e4657
25. HM Harville S Held A Diaz-Font EE Davis BH Diplas RA Lewis ZU Borochowitz W Zhou M Chaki J MacDonald H Kayserili PL Beales N Katsanis E Otto F Hildebrandt 2010 Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping J Med Genet 47 262 267 19797195 10.1136/jmg.2009.071365 1:CAS:528:DC%2BC3cXntlWkt7w%3D
26. J Muller C Stoetzel MC Vincent CC Leitch V Laurier JM Danse S Helle V Marion V Bennouna-Greene S Vicaire A Megarbane J Kaplan V Drouin-Garraud M Hamdani S Sigaudy C Francannet J Roume P Bitoun A Goldenberg N Philip S Odent J Green M Cossee EE Davis N Katsanis D Bonneau A Verloes O Poch JL Mandel H Dollfus 2010 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 20177705 10.1007/s00439-010-0804-9 1:CAS:528: DC%2BC3cXkvVOmu7k%3D
27. I Pereiro D Valverde T Pineiro-Gallego M Baiget S Borrego C Ayuso C Searby D Nishimura 2010 New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping Mol Vis 16 137 143 20142850 1:CAS:528:DC%2BC3cXhslGitbo%3D
28. A Putoux S Mougou-Zerelli S Thomas N Elkhartoufi S Audollent M Le Merrer A Lachmeijer S Sigaudy A Buenerd C Fernandez AL Delezoide MC Gubler R Salomon A Saad MP Cordier M Vekemans R Bouvier T Attie-Bitach 2010 BBS10 mutations are frequent in "Meckel" type cystic kidneys J Med Genet 47 848 852 20805367 10.1136/jmg.2010.079392 1:CAS:528:DC%2BC3MXhtVKrtLc%3D
29. C Stoetzel V Laurier EE Davis J Muller S Rix JL Badano CC Leitch N Salem E Chouery S Corbani N Jalk S Vicaire P Sarda C Hamel D Lacombe M Holder S Odent S Holder AS Brooks NH Elcioglu ED Silva B Rossillion S Sigaudy TJ de Ravel RA Lewis B Leheup A Verloes P Amati-Bonneau A Megarbane O Poch D Bonneau PL Beales JL Mandel N Katsanis H Dollfus 2006 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus Nat Genet 38 521 524 16582908 10.1038/ng1771 1:CAS:528:DC%2BD28XjvVGksbk%3D
30. N Katsanis SJ Ansley JL Badano ER Eichers RA Lewis BE Hoskins PJ Scambler WS Davidson PL Beales JR Lupski 2001 Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder Science 293 2256 2259 11567139 10.1126/science.1063525 1:CAS:528:DC%2BD3MXntFCrurs%3D (Pubitemid 32900235)
31. JL Badano JC Kim BE Hoskins RA Lewis SJ Ansley DJ Cutler C Castellan PL Beales MR Leroux N Katsanis 2003 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 12 1651 1659 12837689 10.1093/hmg/ddg188 1:CAS:528:DC%2BD3sXltFygsL0%3D (Pubitemid 36896658)
32. N Katsanis PL Beales MO Woods RA Lewis JS Green PS Parfrey SJ Ansley WS Davidson JR Lupski 2000 Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome Nat Genet 26 67 70 10973251 10.1038/79201 1:CAS:528:DC%2BD3cXmsVKku7s%3D
33. CC Leitch NA Zaghloul EE Davis C Stoetzel A Diaz-Font S Rix M Alfadhel RA Lewis W Eyaid E Banin H Dollfus PL Beales JL Badano N Katsanis 2008 Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome Nat Genet 40 443 448 18327255 10.1038/ng.97 1:CAS:528: DC%2BD1cXjslCgtbc%3D (Pubitemid 351450887)
34. H Karmous-Benailly J Martinovic MC Gubler Y Sirot L Clech C Ozilou J Auge N Brahimi H Etchevers E Detrait C Esculpavit S Audollent G Goudefroye M Gonzales J Tantau P Loget M Joubert D Gaillard C Jeanne-Pasquier AL Delezoide MO Peter G Plessis B Simon-Bouy H Dollfus M Le Merrer A Munnich F Encha-Razavi M Vekemans T Attie-Bitach 2005 Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome Am J Hum Genet 76 493 504 15666242 10.1086/428679 1:CAS:528:DC%2BD2MXhsFKrsbc%3D (Pubitemid 40250528)
35. JD Harnett JS Green BC Cramer G Johnson L Chafe P McManamon NR Farid W Pryse-Phillips PS Parfrey 1988 The spectrum of renal disease in Laurence-Moon-Biedl syndrome N Engl J Med 319 615 618 3412378 10.1056/NEJM198809083191005 1:STN:280:DyaL1czhvVyisg%3D%3D
36. RM Hurley P Dery MB Norady KN Drummond 1975 The renal lesion of the Laurence-Moon-Biedl syndrome J Pediatr 87 206 209 1151560 10.1016/S0022-3476(75) 80580-4 1:STN:280:DyaE2M3htlaltQ%3D%3D
37. M Tieder M Levy M Gubler M Gagnadoux M Broyer 1982 Renal abnormalities in the Bardet-Biedl syndrome Int J Pediatr Nephrol 3 199 203 7141791 1:STN:280:DyaL3s%2Fls1SnsQ%3D%3D (Pubitemid 12000650)
38. L de Pontual NA Zaghloul S Thomas EE Davis DM McGaughey H Dollfus C Baumann SL Bessling C Babarit A Pelet C Gascue P Beales A Munnich S Lyonnet H Etchevers T Attie-Bitach JL Badano AS McCallion N Katsanis J Amiel 2009 Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease Proc Natl Acad Sci USA 106 13921 13926 19666486 10.1073/pnas.0901219106
39. PL Beales N Elcioglu AS Woolf D Parker FA Flinter 1999 New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey J Med Genet 36 437 446 10874630 1:STN:280:DC%2BD3czjt1yjtg%3D%3D (Pubitemid 29267741)
40. ML Bauman GR Hogan 1973 Laurence-Moon-Biedl syndrome. Report of two unrelated children less than 3 years of age Am J Dis Child 126 119 126 4723162 1:STN:280:DyaE3s3jtFWjug%3D%3D
41. TD Hjortshoj K Gronskov AR Philp DY Nishimura R Riise VC Sheffield T Rosenberg K Brondum-Nielsen 2010 Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes Hum Mutat 31 429 436 20120035 10.1002/humu.21204 1:CAS:528:DC%2BC3cXlslGhtLk%3D
42. R Riise S Andreasson MK Borgastrom AF Wright N Tommerup T Rosenberg K Tornqvist 1997 Intrafamilial variation of the phenotype in Bardet-Biedl syndrome Br J Ophthalmol 81 378 385 9227203 10.1136/bjo.81.5.378 1:STN:280: DyaK2szntV2kug%3D%3D (Pubitemid 27271855)
43. C Rooryck D Lacombe 2008 Bardet-Biedl syndrome Ann Endocrinol (Paris) 69 463 471 10.1016/j.ando.2008.10.001 1:CAS:528:DC%2BD1MXhsVanu7c%3D
44. SJ Moore JS Green Y Fan AK Bhogal E Dicks BA Fernandez M Stefanelli C Murphy BC Cramer JC Dean PL Beales N Katsanis AS Bassett WS Davidson PS Parfrey 2005 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 15637713 (Pubitemid 40175583)
45. P Parfrey W Davidson J Green 2002 Clinical and genetic epidemiology of inherited renal disease in Newfoundland Kidney Int 61 1925 1934 12028433 10.1046/j.1523-1755.2002.00305.x (Pubitemid 34539310)
46. A Iannaccone K Mykytyn AM Persico CC Searby A Baldi MM Jablonski VC Sheffield 2005 Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene Am J Med Genet A 132 343 346 15654695 (Pubitemid 40175581)
47. HM Kulaga CC Leitch ER Eichers JL Badano A Lesemann BE Hoskins JR Lupski PL Beales RR Reed N Katsanis 2004 Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse Nat Genet 36 994 998 15322545 10.1038/ng1418 1:CAS:528:DC%2BD2cXntFSku7o%3D (Pubitemid 39167497)
48. L Abu Safieh MA Aldahmesh H Shamseldin M Hashem R Shaheen H Alkuraya SA Al Hazzaa A Al-Rajhi FS Alkuraya 2010 Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping J Med Genet 47 236 241 19858128 10.1136/jmg.2009.070755 1:CAS:528:DC%2BC3cXntlWktrY%3D
49. K Elbedour N Zucker E Zalzstein Y Barki R Carmi 1994 Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients Am J Med Genet 52 164 169 7802002 10.1002/ajmg.1320520208 1:STN:280:DyaK2M7gtVamtA%3D%3D (Pubitemid 24271039)
50. DN Churchill P McManamon RM Hurley 1981 Renal disease-a sixth cardinal feature of the Laurence-Moon-Biedl syndrome Clin Nephrol 16 151 154 7296973 1:STN:280:DyaL38%2FkvFartQ%3D%3D (Pubitemid 11059967)
51. D O'Dea PS Parfrey JD Harnett D Hefferton BC Cramer J Green 1996 The importance of renal impairment in the natural history of Bardet-Biedl syndrome Am J Kidney Dis 27 776 783 8651240 10.1016/S0272-6386(96)90513-2 (Pubitemid 26169028)
52. O Imhoff V Marion C Stoetzel M Durand M Holder S Sigaudy P Sarda CP Hamel C Brandt H Dollfus B Moulin 2010 Bardet-Biedl Syndrome: a study of the renal and cardiovascular phenotypes in a French cohort Clin J Am Soc Nephrol 10.2215/CJN.03320410 20876674
53. O Gourdol L David S Colon R Bouvier A Ayral M Aguercif R Francois 1984 Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome. Apropos of 3 cases Pédiatrie 39 175 181 6473010 1:STN:280:DyaL2c3pslShtQ%3D%3D (Pubitemid 14073793)
54. MR Ansari AM Junejo 2006 Bardet-Biedl syndrome presenting with end stage renal failure J Coll Physicians Surg Pak 16 487 488 16827964 (Pubitemid 44340065)
55. O Hergesell 1997 End-stage renal disease due to Bardet-Biedl syndrome Nephrol Dial Transplant 12 1773 1774 9269679 10.1093/ndt/12.8.1773 1:STN:280:DyaK2svhsFSgtA%3D%3D (Pubitemid 27346323)
56. AK Hooda SC Karan JS Bishnoi A Nandwani T Sinha 2009 Renal transplant in a child with Bardet-Biedl syndrome: a rare cause of end-stage renal disease Indian J Nephrol 19 112 114 20436731 10.4103/0971-4065.57108 1:STN:280:DC%2BC3czgsFalsg%3D%3D
57. RM Langer K Foldes L Szalay J Jaray 2005 Laurence-Moon-Bardet-Biedl syndrome for kidney transplantation at the age of 57 years Transplant Proc 37 4223 4224 16387083 10.1016/j.transproceed.2005.10.024 1:STN:280: DC%2BD28%2Fgt1egtg%3D%3D (Pubitemid 43015994)
58. M Sharifian M Dadkhah-Chimeh B Einollahi M Nafar N Simforoush A Basiri H Otukesh 2007 Renal transplantation in patients with Bardet-Biedl syndrome Arch Iran Med 10 339 342 17604471 (Pubitemid 47162531)
59. B Ucar A Yakut N Kural F Buyukasik E Vardareli 1997 Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome: report of five cases Pediatr Nephrol 11 31 35 9035169 10.1007/s004670050228 1:STN:280:DyaK2s7oslOitA%3D%3D (Pubitemid 27049408)
60. S Ulusoy K Kaynar S Gul K Ukinc 2004 Renal failure due to Bardet-Biedl syndrome. A case report Med Princ Pract 13 380 382 15467317 10.1159/000080479 (Pubitemid 39370441)
61. NH Bluett C Chantler JD Singer HM Saxton 1977 Congenital renal abnormalities in the Laurence-Moon-Biedl syndrome Arch Dis Child 52 968 970 606174 10.1136/adc.52.12.968 1:STN:280:DyaE1c7it1yntA%3D%3D (Pubitemid 8266752)
62. M Labrune JC Gaux B Brault 1974 The Laurence-Moon-Bardet-Biedl syndrome. Urographic signs Ann Radiol Paris 17 385 389 4217117 1:STN:280: DyaE2M%2FovFeitQ%3D%3D
63. M Cassart D Eurin F Didier L Guibaud EF Avni 2004 Antenatal renal sonographic anomalies and postnatal follow-up of renal involvement in Bardet-Biedl syndrome Ultrasound Obstet Gynecol 24 51 54 15229916 10.1002/uog.1086 1:STN:280:DC%2BD2czivVCktg%3D%3D (Pubitemid 38932247)
64. K Chaumoitre M Brun M Cassart B Maugey-Laulom D Eurin F Didier EF Avni 2006 Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study Ultrasound Obstet Gynecol 28 911 917 17094077 10.1002/uog.3856 1:STN:280:DC%2BD28npsF2msQ%3D%3D (Pubitemid 46025209)
65. D Colin P Meunier D Forestier JM Le Fur J Le Guyader M Bellet 1989 The value of echography in the early diagnosis of renal lesions in the Laurence-Moon-Bardet-Biedl syndrome. Apropos of a case J Radiol 70 61 64 2654380 1:STN:280:DyaL1M3js1WrtQ%3D%3D (Pubitemid 19075177)
66. J Dippell DE Varlam 1998 Early sonographic aspects of kidney morphology in Bardet-Biedl syndrome Pediatr Nephrol 12 559 563 9761354 10.1007/ s004670050504 1:STN:280:DyaK1cvjt1Ghsw%3D%3D (Pubitemid 28408226)
67. D Price JG Gartner BS Kaplan 1981 Ultrastructural changes in the glomerular basement membrane of patients with Laurence-Moon-Biedl-Bardet syndrome Clin Nephrol 16 283 288 7318262 1:STN:280:DyaL38%2Fptl2lug%3D%3D (Pubitemid 12248226)
68. PL Beales JL Badano AJ Ross SJ Ansley BE Hoskins B Kirsten CA Mein P Froguel PJ Scambler RA Lewis JR Lupski N Katsanis 2003 Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome Am J Hum Genet 72 1187 1199 12677556 10.1086/375178 1:CAS:528:DC%2BD3sXjslagurw%3D (Pubitemid 36530006)
69. K Mykytyn DY Nishimura CC Searby G Beck K Bugge HL Haines AS Cornier GF Cox AB Fulton R Carmi A Iannaccone SG Jacobson RG Weleber AF Wright R Riise RC Hennekam G Lüleci S Berker-Karauzum LG Biesecker EM Stone VC Sheffield 2003 Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1) Am J Hum Genet 72 429 437 12524598 10.1086/346172 1:CAS:528:DC%2BD3sXht12rt7c%3D (Pubitemid 36194250)
70. JL Badano CC Leitch SJ Ansley H May-Simera S Lawson RA Lewis PL Beales HC Dietz S Fisher N Katsanis 2006 Dissection of epistasis in oligogenic Bardet-Biedl syndrome Nature 439 326 330 16327777 10.1038/nature04370 1:CAS:528:DC%2BD28XkvF2mug%3D%3D (Pubitemid 43128856)
71. V Laurier C Stoetzel J Muller C Thibault S Corbani N Jalkh N Salem E Chouery O Poch S Licaire JM Danse P Amati-Bonneau D Bonneau A Megarbane JL Mandel H Dollfus 2006 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 14 1195 1203 16823392 10.1038/sj.ejhg.5201688 1:CAS:528:DC%2BD28XhtFaks77O (Pubitemid 44642585)
72. PL Beales HA Reid MH Griffiths ER Maher FA Flinter AS Woolf 2000 Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome Nephrol Dial Transplant 15 1977 1985 11096143 10.1093/ndt/15.12.1977 1:CAS:528:DC%2BD3cXptVeit7k%3D
73. M Benzinou A Walley S Lobbens MA Charles B Jouret F Fumeron B Balkau D Meyre P Froguel 2006 Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians Diabetes 55 2876 2882 17003356 10.2337/db06-0337 1:CAS:528:DC%2BD28XhtVGlsrfE (Pubitemid 44923690)
74. GF Cox RM Hansen N Quinn AB Fulton 2003 Retinal function in carriers of Bardet-Biedl syndrome Arch Ophthalmol 121 804 810 12796250 10.1001/archopht.121. 6.804 (Pubitemid 36676216)
75. JB Croft D Morrell CL Chase M Swift 1995 Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome Am J Med Genet 55 12 15 7702084 10.1002/ajmg.1320550105 1:STN:280:DyaK2M3hs1KntQ%3D%3D
76. TD Hjortshoj K Gronskov T Rosenberg K Brondum-Nielsen JH Olsen 2007 Risk for cancer in patients with Bardet-Biedl syndrome and their relatives Am J Med Genet A 143A 1699 1702 17587209 10.1002/ajmg.a.31805 (Pubitemid 47217266)
77. MP Webb EL Dicks JS Green SJ Moore GM Warden JS Gamberg WS Davidson TL Young PS Parfrey 2009 Autosomal recessive Bardet-Biedl syndrome: first-degree relatives have no predisposition to metabolic and renal disorders Kidney Int 76 215 223 19367329 10.1038/ki.2009.116 1:CAS:528:DC%2BD1MXnvVyitLk%3D