Rieger syndrome: a clinical, molecular, and biochemical analysis

被引:89
作者
Amendt, BA
Semina, EV
Alward, WLM
机构
[1] Univ Tulsa, Dept Biol Sci, Tulsa, OK 74104 USA
[2] Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA
[3] Univ Iowa, Dept Ophthalmol & Visual Sci, Iowa City, IA 52242 USA
关键词
Rieger syndrome; PITX2; homeodomain; human disorder;
D O I
10.1007/PL00000647
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Rieger syndrome (RIEG I; MIM 180500) is an autosomal dominant disorder of morphogenesis. It is a phenotypically heterogeneous disorder characterized by malformations of the eyes, teeth, and umbilicus. RIEG belongs to the Axenfeld-Rieger group of anomalies, which includes Axenfeld anomaly and Rieger anomaly (or Rieger eye malformation), which display ocular features only. Recently, mutations in the homeodomain transcription factor, PITX2, have been shown to be associated with Rieger syndrome. This review discusses the clinical manifestations of Rieger syndrome and how they correlate with the current molecular and biochemical studies on this human disorder.
引用
收藏
页码:1652 / 1666
页数:15
相关论文
共 103 条
  • [1] AKAZAWA K, 1981, JPN J OPHTHALMOL, V25, P321
  • [2] Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene
    Alward, WLM
    Semina, EV
    Kalenak, JW
    Héon, E
    Sheth, BP
    Stone, EM
    Murray, JC
    [J]. AMERICAN JOURNAL OF OPHTHALMOLOGY, 1998, 125 (01) : 98 - 100
  • [3] ALWARD WLM, 1995, MOL GENETICS OCULAR
  • [4] Alward WLM, 1994, COLOR ATLAS GONIOSCO
  • [5] Alward WLM, 2000, REQUISITES OPHTHALMO
  • [6] Amand T.R.S., 1998, BIOCHEM BIOPH RES CO, DOI DOI 10.1006/BBRC.1998.8740
  • [7] Amendt BA, 1999, MOL CELL BIOL, V19, P7001
  • [8] The molecular basis of Rieger syndrome - Analysis of Pitx2 homeodomain protein activities
    Amendt, BA
    Sutherland, LB
    Semina, EV
    Russo, AF
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 1998, 273 (32) : 20066 - 20072
  • [9] Identification and characterization of the ARP1 gene, a target for the human acute leukemia ALL1 gene
    Arakawa, H
    Nakamura, T
    Zhadanov, AB
    Fidanza, V
    Yano, T
    Bullrich, F
    Shimizu, M
    Blechman, J
    Mazo, A
    Canaani, E
    Croce, CM
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (08) : 4573 - 4578
  • [10] AXENFELD TH, 1920, AUGENHEIKD, V65, P381