Amendt B A, Semina E V, Alward W L
Department of Biological Sciences, The University of Tulsa, Oklahoma 74104-3189, USA.
Cell Mol Life Sci. 2000 Oct;57(11):1652-66. doi: 10.1007/pl00000647.
Rieger syndrome (RIEG 1; 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.
里格尔综合征(RIEG 1;MIM 180500)是一种常染色体显性形态发生障碍疾病。它是一种表型异质性疾病,其特征为眼睛、牙齿和脐部的畸形。里格尔综合征属于阿克森费尔德-里格尔异常组,该组包括仅表现眼部特征的阿克森费尔德异常和里格尔异常(或里格尔眼畸形)。最近研究表明,同源域转录因子PITX2的突变与里格尔综合征有关。本文综述讨论了里格尔综合征的临床表现,以及这些表现与针对该人类疾病的当前分子和生化研究之间的关联。