A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of Fallot: Genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?

American Journal of Medical Genetics

Volumn 129 A, Issue 1, 2004, Pages 69-72

  Slavotinek, Anne M ^a   Dutra, Amalia ^a   Kpodzo, Dzifa ^b   Pak, Evgenia ^a   Nakane, Takaya ^a   Turner, Joyce ^a   Whiteford, Margo ^c   Biesecker, Leslie G ^a   Stratton, Pamela ^b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c UNIVERSITY OF GLASGOW   (United Kingdom)

Author keywords

Bardet Biedl syndrome; Complete lack of M llerian fusion; Genetic heterogeneity; Mayer Rokitansky Kuster Hausersyndrome; McKusick Kaufman syndrome; Vaginal agenesis

Indexed keywords

ADULT; AMENORRHEA; ARTICLE; BARDET BIEDL SYNDROME; CASE REPORT; CAUCASIAN; CHROMOSOME 13; CHROMOSOME 20P; FALLOT TETRALOGY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; MCKUSICK KAUFMAN SYNDROME; MICROSATELLITE MARKER; MUELLERIAN DUCT; NUCLEAR MAGNETIC RESONANCE IMAGING; PERICENTRIC CHROMOSOME INVERSION; POLYDACTYLY; PRIORITY JOURNAL; ROKITANSKY SYNDROME; SYNDROME; UTERUS HORN; VAGINA APLASIA;

EID: 3342971115     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30071     Document Type: Article

References (42)

1. Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N. 2003. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet 72:650-658.
2. 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.
3. Beales PL, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, Woods MO, Green JS, Parfrey PS, Davidson WS, Lupski JR. 2001. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. Am J Hum Genet 68:606-616.
4. 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.
5. Braun-Quentin C, Billes C, Bowing B, Kotzot D. 1996. MURCS association: Case report and review. J Med Genet 33:618-620.
6. David A, Bitoun P, Lacombe D, Lambert J-C, Nivelon A, Vigneron J, Verloes A. 1999. Hydrometrocolpos and polydactyly: A common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. J Med Genet 36:599-603.
7. Digilio MC, Marino B, Giannotti A, Dallapiccola B. 1997. Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes. Pediatr Cardiol 18:74-75.
8. Elbedour K, Zucker N, Zalzstein E, Barki Y, Carmi R. 1994. Cardiac abnormalities in the Bardet-Biedl syndrome: Echocardiographic studies of 22 patients. Am J Med Genet 52:164-169.
9. Eldadah ZA, Hamosh A, Biery NJ, Montgomery RA, Duke M, Elkins R, Dietz HC. 2001. Familial tetralogy of Fallot caused by mutation in the jagged1 gene. Hum Mol Genet 10:163-169.
10. Folch M, Pigem I, Konje JC, 2000. Mullerian agenesis: Etiology, diagnosis, and management. Obstet Gynecol Surv 55:644-649.
11. Goecke T, Dopfer R, Huenges R, Conzelmann W, Feller A, Majewski F. 1981. Hydrometrocolpos, postaxial polydactyly, congenital heart disease, and anomalies of the gastrointestinal and genitourinary tracts: A rare autosomal recessive syndrome. Eur J Pediatr 136:297-305.
12. Griffin JE, Edwards C, Madden JD, Harrod MJ, Willson JD, 1976. Congenital absence of the vagina: The Mayer-Kokitansky-Kuster-Hauser syndrome. Ann Intern Med 85:224-236.
13. Hamel BCJ, Ter Haar BGA. 1984. Hydrometrocolpos, polydactyly, and congenital heart defect (the McKusick-Dungy-Kaufman syndrome). T Kindergeneesk 52:129-133.
14. Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR. 2000. Mutations in MKKS cause obesity, retinal dystrophy, and renal malformations associated with Bardet-Biedl syndrome. Nat Genet 26:67-70.
15. 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 syndrome. Science 293:2256-2259.
16. Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR. 2002. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Am J Hum Genet 71:22-29.
17. Krantz ID, Smith R, Colliton RP, Tinkel H, Zackai EH, Piccoli DA, Goldmuntz E, Spinner NB. 1999. Jagged1 mutations in patients ascertained with isolated congenital heart defects. Am J Med Genet 84:56-60.
18. Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont ME, Rand EB, Piccoli DA, Hood L, Spinner NB. 1997. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 16:243-251.
19. Lichter P, Cremer T, Borden J, Manuelidis L, Ward DC. 1988. Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries. Hum Genet 80:224-234.
20. Lundsteen C, Lind AM. 1985. A test of climate room for preparation of chromosome slides. Clin Genet 28:260-262.
21. McKusick VA, Bauer RL, Koop CE, Scott RB, 1964. Hydrometrocolpos as a simply inherited malformation. JAMA 189:813-816.
22. McLoughlin TG, Shanklin DR. 1967. Pathology of Laurence-Moon-Bardet-Biedl syndrome. J Pathol Bacteriol 93:65-79.
23. Michels VV, Caskey CT. 1979, Mullerian aplasia with hypoplastic thumbs: Two case reports. Int J Gynacol Obstet 17:6-10.
24. Mykytyn K, Braun T, Haider NB, Searby CC, Shastri M, Beck M, Wright AF, Iannoccone A, Elbedour K, Riise R, Baldi A, Raas-Rothschild A, Gorman SW, Duhl DM, Jacobson SG, Casavant T, Stone EM, Sheffield VC. 2001. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat Genet 28:188-191.
25. Mykytyn K, Nishimura DY, Searby CC, Beck G, Bugge K, Haines HL, Cornier AS, Cox GF, Fulton AB, Carmi R, Iannaccone A, Jacobson SG, Weleber RG, Wright AF, Riise R, Hennekam RC, Luleci G, Berker-Karauzum S, Biesecker LG, Stone EM, Sheffield VC. 2003. Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet 72:429-437.
26. 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, Heon E, Iannoccone 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.
27. Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS, Chandrasekharappa SC. 1997. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 16:235-242.
28. Pinkel D, Straume T, Gray JW. 1986. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci USA 83:2934-2938.
29. Sanderson E, Newman V, Haigh SF, Baker A, Sidhu PS. 2002. Vertebral anomalies in children with Alagille syndrome: An analysis of 50 consecutive patients. Pediatr Radiol 32:114-119.
30. Schachat AP, Maumenee IH. 1982. Bardet-Biedl syndrome and related disorders. Arch Ophthalmol 10:285-288.
31. Schrock E, du Manoir S, Veldman T, Schoell B, Weinberg J, Ferguson-Smith MA, Ning Y, Ledbetter DH, Bar-Am I, Soenksen D, Garini Y, Ried T. 1996. Multicolor spectral karyotyping of human chromosomes. Science 273:494-497.
32. Schrock E, Veldman T, Padilla-Nash H, Ning Y, Spurbeck J, Jalal S, Shaffer LG, Papenhausen P, Kozma C, Phelan MC, Kjeldsen E, Schonberg SA, O'Brien P, Biesecker L, du Manoir S, Ried T. 1997. Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities. Hum Genet 101:255-262.
33. Sheffield VC, Nishimura D, Stone EM. 2001. The molecular genetics of Bardet-Biedl syndrome. Curr Opin Genet Dev 11:317-321.
34. Simpson JL. 1999. Genetics of the female reproductive ducts. Am J Med Genet 89:224-239.
35. 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.
36. Slavotinek AM, Biesecker LG. 2001. Unfolding the role of chaperones and chaperonins in human disease. Trends Genet 17:528-535.
37. Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PA, Sheffield VC, Biesecker LG. 2000. Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet 26:15-16.
38. Slavotinek AM, Searby C, Al-Gazali L, Hennekam RCM, Schrander-Stumpel C, Orcana-Losa M, Pardo-Reoyo S, Kumar D, Cantani A, Capellini Q, Neri G, Zackai E, Biesecker LG. 2002. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Hum Genet 110:561-567.
39. Stone DL, Agarwala R, Schaffer AA, Weber JL, Vaska D, Oda T, Chandrasekharappa SC, Francomano CA, Biesecker LG. 1998. Genetic and physical mapping of the McKusick-Kaufman syndrome. Hum Mol Genet 7:475-481.
40. 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.
41. Strubbe EH, Lemmens JAM, Thijn CJP, Willemsen WNP, van Toor BSJ. 1992. Spinal abnormalities and the atypical form of the Mayer-Rokitansky-Kuster-Hauser syndrome. Skeletal Radiol 21:459-462.
42. Unsinn KM, Neu N, Krejci A, Posch A, Menardi G, Gassner I. 1995. Pallister-Hall syndrome and McKusick-Kaufmann syndrome: One entity? J Med Genet 32:125-128.