Abstract
We report the first familial case of dominantly inherited aniridia with a cryptic inversion within band 11p13. High-resolution chromosome analysis gave a suspicion of a tiny constitutional aberration around band 11p13 and fluorescence in situ hybridization using 11p cosmids successfully confirmed that the aniridia patients of this family have an inversion within band 11p13. The distal breakpoint of the inversion is telomeric to a candidate aniridia gene (AN2) and suggests that more genes might be involved in the etiology of aniridia. In situ hybridization is a powerful tool to detect cryptic rearrangements in sporadic or familial patients with aniridia. This family indicated the importance of careful observation of the 11p13 region of aniridia patients, even if the aniridia was autosomal dominantly inherited.
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Call KM, Glaser T, Ito CY, Buckler AJ, Pelletier J, Haber DA, Rose EA, Kral A, Yeger H, Lewis WH, Jones C, Housman DE (1990) Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms's tumor locus. Cell 60:509–520
Ferrell RE, Chakarvarti A, Hittner HM, Riccardi V (1980) Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2. Proc Natl Acad Sci USA 77:1580–1583
Fukushima Y, Ohashi H, Wakui K, T Nishida, Oh-ishi T (1992) A rapid method for starting a culture for the establishment of Epstein-Barr virus-transformed human lymphoblastoid cell lines. Jpn J Hum Genet 37:149–150
Gessler M, Poustka A, Cavenee W, Neve RL, Orkin SH, Bruns GAP (1990) Homozygous deletion in Wilms' tumours of a zinc-finger gene identified by chromosome jumping. Nature 343:774–778
Heding IJJP, Ivens AC, Wilson J, Strivens M, Gregory S, Hoovers JMN, Mannens M, Redeker B, Porteous D, van Heyningen V, Little PFR (1992) The generation of ordered sets of cosmid DNA clones from human chromosome region 11p. Genomics 13:89–94
Hoovers JMN, Mannens M, John R, Bliek J, van Heyningen V, Porteous D, Leschot NJ, Westerveld A, Little PFR (1992) High resolution localization of 69 potential human zinc finger protein genes: a number are clustered. Genomics 12:254–263
Huff V, Compton DA, Strong LC, Saunders GF (1990) A panel of restriction fragment length polymorphisms for chromosomal band 11p13. Hum Genet 84:253–257
Human Gene Mapping 10 (1989) 10th International Workshop on Human Gene Mapping. Cytogenet Cell Genet 51:226–258
Kuwano A, Ledbetter SA, Dobyns WB, Emanuel BS, Ledbetter DH (1991) Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am J Hum Genet 49:707–714
Lewis WH, Yeger H, Bonetta L, Chan HSL, Kang J, Junien C, Cowell J, Jones C, Dafoe LA (1988) Homozygous deletion of a DNA marker from chromosome 11p13 in sporadic Wilms' tumor. Genomics 3:25–31
Lichter P, Cremer T, Borden L, 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
Lichter P, Tang CJC, Call K, Hermanson G, Evans GA, Housman D, Ward DC (1990) High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science 247:64–69
Lux SE, Tse WT, Menninger JC, John KM, Harris P, Shalev O, Chilcote RR, Marchesi SL, Watkins PC, Bennett V, McIntosh S, Collins FS, Francke U, Ward DC, Forget BG (1990) Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8. Nature 345:736–739
Lyons LA, Martha A, Mintz-Hittner HA, Saunders GF, Ferrell RE (1992) Resolution of the two loci for autosomal dominant aniridia, AN1 and AN2, to a single locus on chromosome 11p13. Genomics 13:925–931
Mannens M, Bleeker-Wagemakers M, Bliek J, Hoovers J, Mandjes S, van Toi S, Frantz RR, Heyting C, Westerveld A, Slater RM (1989) Autosomal dominant aniridia linked to the chromosome 11p13 markers catalase and D11S151 in a large Dutch family. Cytogenet Cell Genet 52:32–36
Mannens M, Hoovers JMN, Bleeker-Wagemakers EM, Redeker E, Bliek J, Overbeeke-Melkert M, Saunders G, Williams B, van Heyningen V, Junien C, Haber D, Speleman F, Heyting C, Slater RM, Leschot NJ, Westerveld A (1991) The distal region of 11p13 and associated genetic diseases. Genomics 11:284–293
Moore JW, Hyman S, Antonarakis SE, Mules EH, Thomas GH (1986) Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]. Hum Genet 72:297–302
Pelletier J, Bruenign W, Kashtan CE, Mauer SM, Manivel JC, Striegel JE, Houghton DC, Junien C, Habib R, Fouser L, Fine RN, Silverman BL, Haber DA, Housman D (1991) Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 67:437–447
Pettenati MJ, Weaver RG, Burton BK (1989) Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia. Am J Med Genet 34:230–232
Ried T, Mahler V, Vogt P, Blonden L, van Ommen GJB, Cremer T, Cremer M (1990) Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/ Becker muscular dystrophy locus. Hum Genet 85:581–586
Simola KOJ, Knuutila S, Kaitila I, Pirkola A, Pohja P (1983) Familial aniridia and translocation t(4;11)(q22;p13) without Wilms's tumor. Hum Genet 63:158–161
Tokino T, Takahashi E, Mori M, Tanigami A, Glaser T, Park JW, Jones C, Hori T, Nakamura Y (1991) Isolation and mapping of 62 new RFLP markers on human chromosome 11. Am J Med Genet 48:258–268
Ton CCT, Hirvonen H, Miwa H, Weil MM, Monaghan P, Jordan T, van Heyningen V, Hastie ND, Meijers-Heijboer H, Drechsler M, Royer-Pokora B, Collins F, Swaroop A, Strong LC, Saunders GF (1991) Positional cloning and characterization of a paired box — and homeobox-containing gene from he aniridia region. Cell 67:1059–1074
Wadey RB, Little PFR, Pritchard J, Cowell JK (1990) Isolation and regional localization of DNA sequences from a human chromosome 11-specific cosmid library. Hum Genet 84:417–423
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Fukushima, Y., Hoovers, J., Mannens, M. et al. Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization. Hum Genet 91, 205–209 (1993). https://doi.org/10.1007/BF00218257
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DOI: https://doi.org/10.1007/BF00218257