Engenheiro E, Saraiva J, Carreira I, Ramos L, Ropers H H, Silva E, Tommerup N, Tümer Z
Department of Cellular and Molecular Medicine, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.
Clin Genet. 2007 Nov;72(5):464-70. doi: 10.1111/j.1399-0004.2007.00879.x. Epub 2007 Sep 10.
Axenfeld-Rieger syndrome (ARS) is a genetically heterogeneous autosomal dominant disorder mainly characterized by developmental defects of the anterior segment and extraocular anomalies. ARS shows great clinical variability and encompasses several conditions with overlapping phenotypes, including Rieger syndrome (RS). RS is characterized by developmental defects of the eyes, teeth and umbilicus, and the main causative gene is PITX2 (paired-like homeodomain transcription factor 2, or RIEG1) at 4q25. PITX2 mutations show great variety, from point mutations to microscopic or submicroscopic deletions, and apparently balanced translocations in few cases. We identified cytogenetically undetectable submicroscopic deletions at 4q25 in two unrelated patients diagnosed with RS. One patient had a t(4;17)(q25;q22)dn translocation with a deletion at the 4q breakpoint, and the other patient had an interstitial deletion of 4q25. Both deletions included only the PITX2 and ENPEP (glutamyl aminopeptidase) genes.
阿克森费尔德-里格尔综合征（ARS）是一种遗传异质性常染色体显性疾病，主要特征为眼前节发育缺陷和眼外异常。ARS具有高度临床变异性，涵盖多种具有重叠表型的病症，包括里格尔综合征（RS）。RS的特征为眼、牙和脐的发育缺陷，主要致病基因是位于4q25的PITX2（成对样同源结构域转录因子2，或RIEG1）。PITX2突变形式多样，从点突变到微观或亚微观缺失，少数情况下还有明显平衡易位。我们在两名诊断为RS的无关患者中，通过细胞遗传学方法检测到4q25处存在无法检测到的亚微观缺失。一名患者有t(4;17)(q25;q22)dn易位，在4号染色体q25断点处有缺失，另一名患者有4q25间质缺失。两个缺失均仅包含PITX2和ENPEP（谷氨酰氨肽酶）基因。
