Summary
There are three types of X-linked cataracts recorded in Mendelian Inheritance in Man (McKusick 1988): congenital total, with posterior sutural opacities in heterozygotes: congenital, with microcornea or slight microphthalmia; and the cataract-dental syndrome or Nance-Horan (NH) syndrome. To identify a DNA marker close to the gene responsible for the NH syndrome, linkage analysis on 36 members in a three-generation pedigree including seven affected males and nine carrier females was performed using 31 DNA markers. A LOD score of 1.662 at 0=0.16 was obtained with probe 782 from locus DXS85 on Xp22.2–p22.3. Negative LOD scores were found at six loci on the short arm, one distal to DXS85, five proximal, and six probes spanning the long arm were highly negative. These results make the assignment of the locus for NH to the distal end of the short arm of the X chromosome likely.
Similar content being viewed by others
References
Ahrens P, Kruse TA (1986) An anonymous X-chromosomal clone identifying a fragment RFLP at Xp21–22 (HGM8 Provisional no DXS207). Nucleic Acids Res 14:7819
Ahrens P, Albertsen H, Riisvestergaard SR, Bolund L, Kruse TA (1985) Anonymous X-chromosomal probes revealing DNA polymorphisms, one of which is a deletion of more than 3 kb. Cytogenet Cell Genet 40:567
Aldridge J, Kunkel LM, Bruns G, Tantravahi U, Lalande M, Brewster T, Moreau E, Wilson M, Bromley W, Roderick T, Latt SA (1984) A strategy to reveal high-frequency RFLPs along the human X-chromosome. Am J Hum Genet 36:546–564
Bakker E, Hofker MH, Goor N, Mandel IM, Wrogemann K, Davies K, Kunkel LM, Willard HF, Fenton WA, Sandkuyl L, Majoor-Krakauer D, Essen JV, Jakoda MGH, Sachs ES, Ommen GJB van, Pearson PL (1985) Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet 1:655–658
Bixler D, Higgins M, Hartsfield J Jr (1984) The Nance-Horan syndrome — a rare X-linked ocular-dental trait with expression in heterozygous females. Clin Genet 26:30–35
Boggs BA, Nussbaum RL (1984) Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in region Xq26-qter. Somat Cell Mol Genet 10:607–613
Borresen A-L, Jorfald A-B, Berg K (1985) DNA polymorphisms of the RC8 probe on the X-chromosome. Identification of a new DNA variant with the TaqI enzyme. Clin Genet 27:411–413
Bruns G, Aldridge J, Kunkel LM, Tantravahi U, Lalande M, Dryja T, Latt SA (1984) Molecular analysis of the human X- chromosome. Cytogenet Cell Genet 37:428–429
Capella JA, Kaufman HE, Lill FJ, Cooper G (1963) Hereditary cataracts and microphtalmia. Am J Ophthalmol 56:454–458
Davies KE, Kenwrick S, Forrest S, Ball SP, Ingle C, Bates G, Ellis KM, Mandel IM, Kunkel LM, Willard H, Williamson R, Pearson PL, Benham FJ (1985a) Physical mapping of RFLPs surrounding the Duchenne muscular dystrophy locus. Cytogenet Cell Genet 40:613
Davies KE, Briand P, Ionescu G, Williamson R, Brown C, Cavard C, Cathelineau L (1985b) Gene for OTC — characterization and linkage to Duchenne muscular dystrophy. Nucleic Acids Res 13:155–165
Dorp DB van, Delleman JW (1979) A family with X-chromosomal recessive congenital cataract, microphthalmia, a peculiar form of ear and dental anomalies. J Pediatr Ophthalmol Strabismus 16:166–171
Drayna D, Davies K, Hartley D, Mandel J-L, Camerino G, Williamson R, White R (1984) Genetic mapping of the human X-chromosome by using restriction fragment length polymorphisms. Proc Natl Acad Sci USA 81:2836–2839
Feinberg AP, Vogelstein B (1984) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Addendum. Anal Biochem 137:266–267
Fraccaro M, Morone G, Manfredini U, Sanger R (1967) X-linked cataract. Ann Hum Genet (London) 31:45–50
François J (1963) Congenital cataracts, Thomas, Springfield, lIll/van Gorcum, Assen, p 2
Gillard EF, Affara NA, Yates JRW, Goudie DR, Lambert J, Aitken DA, Ferguson-Smith MA (1987) Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency). Nucleic Acids Res 15:3977–3985
Gitschier A, Drayna D, Tuddenham EGD, White RL, Lawn RM (1985) Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene. Nature 314:738–740
Goodfellow PJ, Darling SM, Thomas NS, Goodfellow PN (1986) A pseudoautosomal gene in man. Science 234:740–743
Hofker MH, Wapenaar MC, Goor N, Bakker E, Ommen GJB van, Pearson PL (1985) Isolation of probes detecting restriction fragment length polymorphisms from X-chromosome specific libraries — potential use for diagnosis of Duchenne muscular dystrophy. Hum Genet 70:148–156
Hofker MH, Ommen GJB van, Bakker E, Burmeister M, Pearson PL (1986) Development of additional RFLP probes near the locus for Duchenne muscular dystrophy by cosmid cloning of the DXS84 (754) locus. Hum Genet 74:270–274
Horan MB, Billson FA (1974) X-linked cataract and Hutchinsonian teeth. Aust Paediatr J 10:98–102
Koenig M, Camerino G, Heilig R, Mandel J-L (1984) A DNA fragment from the human X-chromosome short arm which detects a partially homologous sequence on the Y chromosome's long arm. Nucleic Acids Res 12:4097–4109
Krill AE, Woodbury G, Bowman J (1969) X-Chromosomal-linked sutural cataracts. Am J Ophthalmol 68:867–872
Kunkel LM, Smith KD, Boyer SH, Borgaonkar DS, Wachtel SS, Miller OJ, Breg WR, Jones HW, Rary JM (1977) Analysis of human Y-chromosomal-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 74:1245–1249
Kunkel LM, Monaco AP, Middlesworth W, Ochs HD, Latt SA (1985) Specific cloning of DNA fragments absent from the DNA of a male patient with an X-chromosome deletion. Proc Natl Acad Sci USA 82:4778–4782
Levin LS, Cortin P (1976) X-linked cataract, microcornea, and dental anomalies. Abstracts of the 1976 Birth Defects Conference. Vancouver, BC. p 246a
Lewis RA, Nussbaum RL, Stambolian D (1990) Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the ocus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2–Xp22.3. Ophthalmology 97:110–121
Maniatis T, Fritsch EF, Sambrook J (eds) (1982) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
McKusick VA (1988) Mendelian inheritance in man — catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. 8th edn. The Johns Hopkins Press, Baltimore
Middlesworth W, Berteison C, Kunkel LM (1985) An RFLP detecting single copy X-chromosome fragment dic56, from Xp22-Xpter [HGM8 assignment no DXS143]. Nucleic Acids Res 13:5723
Nance WE, Warburg M, Bixler D, Helveston EM (1974) Congenital X-linked cataract, dental anomalies and brachymetacarpalia. Birth Defects 10:285–291
Oberlé I, Drayna D, Camerino G, White R, Mandel J-L (1985) The telomeric region of the human X-chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. Proc Natl Acad Sci USA 82:2824–2828
Ott J (1974) Estimation of the recombination fraction in human pedigrees. Efficient computation of the likelihood for human linkage studies. Am J Hum Genet 26:588–597
Page D, Martinville B de, Barker D, Scaletta S, LiVolti S, Mollica F (1982) Single-copy sequence hybrids to polymorphic and homologous loci on human X- and Y-chromosomes. Proc Natl Acad Sci USA 79:5352–5356
Pavone L, La Rosa M, Sorge G, Sealetta S, LiVolti S, Mollica F (1981) Ocular manifestations in a family with probably X-linked cataracts. Clin Genet 20:243–246
Rouyer F, Simmler M-C, Vergnaud G, Johnson C, Levilliers J, Petit C, Weissenbach J (1986) The pseudoautosomal region of the sex-chromosome. Cold Spring Harb Symp Quant Biol 51:221–228
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel elcctrophoresis. J Mol Biol 98:1503–1517
Starr T, Wood S (1987) Isolation and characterization of DNA probes from the short arm of the human X chromosome that detect restriction fragment length polymorphisms. Genome 29:201–205
Upadhyaya M, Sarfarazi M, Bamforth JS, Thomas NST, Oberlé I, Young I, Harper PS (1986) Localization of the gene for Hunter syndrome on the long arm of the X-chromosome. Hum Genet 74:391–398
Walsh FB, Wegman ME (1937) A pedigree of hereditary cataract, illustrating sex-limited type. Bull Johns Hopkins Hosp 61:125–135
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Zhu, D., Alcorn, D.M., Antonarakis, S.E. et al. Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome. Hum Genet 86, 54–58 (1990). https://doi.org/10.1007/BF00205172
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00205172