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A Case of Bardet Biedl Syndrome

Year 2008, Volume: 10 Issue: 3, 60 - 63, 01.12.2008

Abstract

Bardet Biedl syndrome is a rare autosomal recessive condition with a wide spectrum of clinical features. The accepted major criteria for diagnosis include retinal dystrophy, obesity, polydactyl, male hypogonadism, mental retardation and renal dysfunction. We presented an 11 years old boy patient exhibiting characteristic features of this syndrome. In the light of this case, the literature about Bardet Biedl syndrome was reviewed

References

  • Bardet G. Sur un syndrome d’obėsitė infantile avec polydactyly et rėtinite pigmentaire. Thesis, University of Paris, France, 1920.
  • Green JS, Parfrey PS, Harnett JD, Farid NR
  • Cramer BC, Johnson G, et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 321:1002-1009,1989.
  • 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
  • Laurence JZ, Moon RC. Four cases of retinintis pigmentosa occurring in the same family, and accompanied by general imperfections of development. Obes Res 3:32-41,1995
  • Schathat AP, Maumenee IH. Bardet-Biedl syndrome and related disorders. Arch Ophthal 100:285-288,1982
  • Croft JB, Morrell D, Chase CL and Swift M. Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome. Am J Med Genet 55:12-15,1995
  • Farag, T.I. and Teebi, A.S Highbincidence of Bardet Biedl syndrome among the Bedouin. Clin Genet 36:463-464,1989
  • Mykytyn, K, Nishimura DY, Searby CC, Shastri M, Yen H, Beck JS, et al. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nature Genet 31:435- 438,2002
  • Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, et al. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Molec Genet 10:865- 874, 2001
  • Pasqualato S, Renault L, Cherfils J: Arf, Arl, Arp and Sar proteins: a family of GTP-Binding proteins with a structural device for 'front-back' communication. EMBO Rep 3:1035-1041, 2002
  • Mykytyn K, Braun T, Carmi R, Haider NB, Searsby CC, Shastri M, et al. İdentification of the gene that when mutated, cuses the human obesity syndrome BBS4. Nature Genet 28:188- 191, 2001
  • Young TL, Penney L, Woods MO, Parfrey PS, Gren JS, Hefferton D, et al. A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31. Am J Hum Genet 64:900-4,1999
  • Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, et al. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet 26:67-70, 2000
  • Badono JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N. İdentification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet 72:650-658, 2003
  • Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, et al. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425:628-633, 2003
  • Li JB, Gerdes JM, Haycraft CJ, Fan Y, Teslovich TM, May-Simera H, et al. Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell 117:541-552,2004 17.
  • McCarthy J, Mahjoub MR, Ansley S, et al. Loss of C. elegans BBS-7 and BBS-8 protein function resultsin cilia defects and compromised intraflagellar transport. Genes Dev 18:1630- 1642, 2004
  • Pazour GJ, Rosenbaum JL. Intraflagellar transport and cilia-dependent diseases. Trends Cell Biol 12:551–555, 2000

Bardet Biedl Sendromlu Bir Olgu

Year 2008, Volume: 10 Issue: 3, 60 - 63, 01.12.2008

Abstract

Bardet Biedl sendromu, geniş klinik yelpazesi olan otozomal resesif geçişli nadir bir durumdur. Retinal distrofi, obezite, polidaktili, erkek hipogonadizmi, mental retardasyon ve renal fonksiyon kaybı, tanı için kabul edilen major kriterleri oluşturur. Bu sendromun karakteristik özelliklerini gösteren 11 yaşında bir erkek çocuk sunduk. Bu sendrom doğrultusunda Bardet Biedl sendromu ile ilgili literatürler de gözden geçirildi

References

  • Bardet G. Sur un syndrome d’obėsitė infantile avec polydactyly et rėtinite pigmentaire. Thesis, University of Paris, France, 1920.
  • Green JS, Parfrey PS, Harnett JD, Farid NR
  • Cramer BC, Johnson G, et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 321:1002-1009,1989.
  • 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
  • Laurence JZ, Moon RC. Four cases of retinintis pigmentosa occurring in the same family, and accompanied by general imperfections of development. Obes Res 3:32-41,1995
  • Schathat AP, Maumenee IH. Bardet-Biedl syndrome and related disorders. Arch Ophthal 100:285-288,1982
  • Croft JB, Morrell D, Chase CL and Swift M. Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome. Am J Med Genet 55:12-15,1995
  • Farag, T.I. and Teebi, A.S Highbincidence of Bardet Biedl syndrome among the Bedouin. Clin Genet 36:463-464,1989
  • Mykytyn, K, Nishimura DY, Searby CC, Shastri M, Yen H, Beck JS, et al. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nature Genet 31:435- 438,2002
  • Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, et al. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Molec Genet 10:865- 874, 2001
  • Pasqualato S, Renault L, Cherfils J: Arf, Arl, Arp and Sar proteins: a family of GTP-Binding proteins with a structural device for 'front-back' communication. EMBO Rep 3:1035-1041, 2002
  • Mykytyn K, Braun T, Carmi R, Haider NB, Searsby CC, Shastri M, et al. İdentification of the gene that when mutated, cuses the human obesity syndrome BBS4. Nature Genet 28:188- 191, 2001
  • Young TL, Penney L, Woods MO, Parfrey PS, Gren JS, Hefferton D, et al. A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31. Am J Hum Genet 64:900-4,1999
  • Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, et al. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet 26:67-70, 2000
  • Badono JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N. İdentification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet 72:650-658, 2003
  • Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, et al. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425:628-633, 2003
  • Li JB, Gerdes JM, Haycraft CJ, Fan Y, Teslovich TM, May-Simera H, et al. Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell 117:541-552,2004 17.
  • McCarthy J, Mahjoub MR, Ansley S, et al. Loss of C. elegans BBS-7 and BBS-8 protein function resultsin cilia defects and compromised intraflagellar transport. Genes Dev 18:1630- 1642, 2004
  • Pazour GJ, Rosenbaum JL. Intraflagellar transport and cilia-dependent diseases. Trends Cell Biol 12:551–555, 2000
There are 20 citations in total.

Details

Primary Language English
Journal Section Case Report
Authors

Hakan Uzun This is me

Kubilay Ar This is me

Alev Aktaş This is me

Mustafa Bak This is me

Publication Date December 1, 2008
Published in Issue Year 2008 Volume: 10 Issue: 3

Cite

APA Uzun, H., Ar, K., Aktaş, A., Bak, M. (2008). A Case of Bardet Biedl Syndrome. Duzce Medical Journal, 10(3), 60-63.
AMA Uzun H, Ar K, Aktaş A, Bak M. A Case of Bardet Biedl Syndrome. Duzce Med J. December 2008;10(3):60-63.
Chicago Uzun, Hakan, Kubilay Ar, Alev Aktaş, and Mustafa Bak. “A Case of Bardet Biedl Syndrome”. Duzce Medical Journal 10, no. 3 (December 2008): 60-63.
EndNote Uzun H, Ar K, Aktaş A, Bak M (December 1, 2008) A Case of Bardet Biedl Syndrome. Duzce Medical Journal 10 3 60–63.
IEEE H. Uzun, K. Ar, A. Aktaş, and M. Bak, “A Case of Bardet Biedl Syndrome”, Duzce Med J, vol. 10, no. 3, pp. 60–63, 2008.
ISNAD Uzun, Hakan et al. “A Case of Bardet Biedl Syndrome”. Duzce Medical Journal 10/3 (December 2008), 60-63.
JAMA Uzun H, Ar K, Aktaş A, Bak M. A Case of Bardet Biedl Syndrome. Duzce Med J. 2008;10:60–63.
MLA Uzun, Hakan et al. “A Case of Bardet Biedl Syndrome”. Duzce Medical Journal, vol. 10, no. 3, 2008, pp. 60-63.
Vancouver Uzun H, Ar K, Aktaş A, Bak M. A Case of Bardet Biedl Syndrome. Duzce Med J. 2008;10(3):60-3.