Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family [3]

American Journal of Medical Genetics, Part A

Volumn 143, Issue 2, 2007, Pages 208-213

  Deffert, Christine ^a   Niel, Florence ^a   Mochel, Fanny ^a   Barrey, Catherine ^b   Romana, Claudia ^c   Souied, Eric ^d   Stoetzel, Corinne ^e   Goossens, Michel ^a   Dollfus, Helene ^e   Verloes, Alain ^f   Girodon, Emmanuelle ^a   Gerard Blanluet, Marion ^f  

^a HENRI MONDOR HOSPITAL   (France)

^b Hopital Saint Camille   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

^d CENTRE HOSPITALIER INTERCOMMUNAL DE CRÉTEIL   (France)

^e HÔPITAL DE HAUTEPIERRE   (France)

^f HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; GENOMIC DNA; MUTANT PROTEIN;

ADOLESCENT; ADULT; ALLELE; AUTOSOMAL RECESSIVE INHERITANCE; BARDET BIEDL SYNDROME; BBS GENE; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE ASSOCIATION; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; GLI3 GENE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LETTER; MALE; NUCLEOTIDE SEQUENCE; OFD GENE; POLYDACTYLY; PRIORITY JOURNAL; SITUS INVERSUS; VISUAL DISORDER;

BARDET-BIEDL SYNDROME; CHILD; CRANIOFACIAL ABNORMALITIES; FATAL OUTCOME; FINGERS; HAPLOTYPES; HUMANS; MALE; POLYDACTYLY; SIBLINGS; SITUS INVERSUS;

EID: 33846027144     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31585     Document Type: Letter

References (38)

1. Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N. 2003. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425:628-633.
2. Badano JL, Leitch CC, Ansley SJ, May-Simera H, Lawson S, Lewis RA, Beales PL, Dietz HC, Fisher S, Katsanis N. 2006. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature 439:326-330.
3. Bardet G. 1920. Sur un syndrome d'obésité infantile avec polydactylie et rétinite pigmentaire (contribution à l'étude des formes cliniques de l'obésité hypophysaire). Thesis: Paris, Note: No. 479.
4. Beales PL. 2005. Lifting the lid on Pandora's box: The Bardet-Biedl syndrome. Curr Opin Genet Dev 15:315-323.
5. Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. 1999. New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey. J Med Genet 36:437-446.
6. Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P, Scambler PJ, Lewis RA, Lupski JR, Katsanis N. 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.
7. Biedl A. 1922. Ein Geschwisterpaar mit adiposo-genitaler Dystrophie. Dtsch Med Wschr 48:1630.
8. Biesecker LG, Abbott M, Allen J, Clericuzio C, Feuillan P, Graham JM Jr, Hall J, Kang S, Olney AH, Lefton D, Neri G, Peters K, Verloes A. 1996. Report from the workshop on Pallister-Hall syndrome and related phenotypes. Am J Med Genet 65:76-81.
9. Chiang AP, Beck JS, Yen HJ, Tayeh MK, Scheetz TE, Swiderski RE, Nishimura DY, Braun TA, Kim KY, Huang J, Elbedour K, Carmi R, Slusarski DC, Casavant TL, Stone EM, Sheffield VC. 2006. Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc Natl Acad Sci USA 103:6287-6292.
10. De Smet L. 2002. IFSSH. International Federation for Societies for Surgery of the Hand JSSH. Japanese Society for Surgery of the Hand. Classification for congenital anomalies of the hand. The IFSSH classification and the JSSH modification. Genet Couns 13:331-338.
11. Eichers ER, Lewis RA, Katsanis N, Lupski JR. 2004. Triallelic inheritance: A bridge between Mendelian and multifactorial traits. Ann Med 36:262-272.
12. Ghadami M, Tomita HA, Najafi MT, Damavandi E, Farahvash MS, Yamada K, Majidzadeh-A K, Niikawa N. 2000. Bardet-Biedl syndrome type 3 in an Iranian family: Clinical study and confirmation of disease localization. Am J Med Genet 94:433-437.
13. Gilbert-Barness E, Debich-Spicer D, Cohen MM Jr, Opitz JM. 2001. Evidence for the "midline" hypothesis in associated defects of laterality formation and multiple midline anomalies. Am J Med Genet 101:382-387.
14. Heon E, Westall C, Carmi R, Elbedour K, Panton C, Mackeen L, Stone EM, Sheffield VC. 2005. Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. Am J Med Genet Part A 132A:283-287.
15. 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. 2005. Testing for triallelism: Analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet 13:607-616.
16. Jacobson SG, Borruat FX, Apathy PP. 1990. Patterns of rod and cone dysfunction in Bardet-Biedl syndrome. Am J Ophthalmol 109:676-688.
17. Kang S, Rosenberg M. Ko VD, Biesecker LG. 1997. Gene structure and allelic expression assay of the human GLI3 gene. Hum Genet 101:154-157.
18. Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, Loget P, Joubert M, Gaillard D, Jeanne-Pasquier C, Delezoide AL, Peter MO, Plessis G, Simon-Bouy B, Dollfus H, Le Merrer M, Munnich A, Encha-Razavi F, Vekemans M, Attie-Bitach T. 2005. Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet 76:493-504.
19. Katsanis N, Lewis RA, Stockton DW, Mai PM, Baird L, Beales PL, Leppert M, Lupski JR. 1999. Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. Am J Hum Genet 65:1672-1679.
20. Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, Scambler PJ, Davidson WS, Beales PL, Lupski JR. 2001. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 293:2256-2259.
21. Kulaga HM, Leitch CC, Eichers ER, Badano JL, Lesemann A, Hoskins BE, Lupski JR, Beales PL, Reed RR, Katsanis N. 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.
22. Lorda-Sanchez I, Ayuso C, Ibanez A. 2000. Situs inversus and Hirschsprung disease: Two uncommon manifestations in Bardet-Biedl syndrome. Am J Med Genet 90:80.
23. Manouvrier-Hanu S, Moerman A, Lefevre J. 1999. Bardet-Biedl syndrome with preaxial polydactyly. Am J Med Genet 84:75.
24. McLoughlin TG, Krovetz LJ, Schiebler GL. 1964. Heart disease in the Laurence-Moon-Biedl-Bardet syndrome: A review and a report of 3 brothers. J Pediatr 65:388-399.
25. Mykytyn K, Sheffield VC. 2004. Establishing a connection between cilia and Bardet-Biedl Syndrome. Trends Mol Med 10:106-109.
26. Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Luleci G, Chandrasekharappa SC, Collins FS, Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC. 2002. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet 31:435-438.
27. Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW,
28. Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC. 2001. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Mol Genet 10:865-874.
29. Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM, Sheffield VC. 2005. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am J Hum Genet 77:1021-1033.
30. Ozden S, Bilgic R, Delikara N, Basaran T. 2002. The sixth clinical report of a rare association: Agnathia-holoprosencephaly-situs inversus. Prenat Diagn 22:840-842.
31. Riise R. 1987. Visual function in Laurence-Moon-Bardet-Biedl syndrome. A survey of 26 cases. Acta Ophthalmol Suppl 182: 128-131.
32. Romio L, Fry AM, Winyard PJ, Malcolm S, Woolf AS. 2004. Feather SAOFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis. J Am Soc Nephrol 15:2556-2568.
33. 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. 2005. Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet 37:1135-1140.
34. Slavotinek AM, Biesecker LG. 2000. Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: A literature review. Am J Med Genet 95:208-215.
35. Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Megarbane A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H. 2006. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet 38:521-524.
36. Stone DL, Slavotinek A, Bouffard GG, Banerjee-Basu S, Baxevanis AD, Barr M, Biesecker LG. 2000. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat Genet 25:79-82.
37. Sudhakar B, Rajaiah N, Gopinath TP. 1987. Dextro-cardia with status inversus in Laurence Moon Biedl syndrome. J Assoc Physicians India 35:724-726.
38. Yen HJ, Tayeh MK, Mullins RF, Stone EM, Sheffield VC, Slusarski DC. 2006. Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Hum Mol Genet 15:667-677.