Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene
Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene
复制标题
DOI：
10.1016/s0002-9394(99)80242-6
复制
发表时间：
1998-01-01
影响因子：
4.2
通讯作者：
Murray, JC
中科院分区：
文献类型：
--
作者：
Alward, WLM;Semina, EV;Murray, JC
目得：目的：探讨Rieger综合征（Rieger syndrome，RIEG）的新基因（RIEG/PITX 2）的突变是否是常染色体显性遗传性虹膜发育不全的原因。这种突变将导致精氨酸色氨酸的氨基酸变化的同源域solurshin，RIEG/PITX 2基因product.CONCLUSION：常染色体显性虹膜发育不全是由同一基因的缺陷，在许多情况下，Rieger综合征是有缺陷的。
PURPOSE: To determine whether autosomal dominant iris hypoplasia is caused by mutations in the newly described gene for Rieger syndrome (RIEG/P1TX2).METHOD: Mutation screening and sequence analysis was performed in a single family.RESULTS: A novel mutation in the RIEG/PITX2 gene was found in all affected but no unaffected individuals. This mutation would be expected to result in an arginine to tryptophan amino acid change in the homeodomain of solurshin, the RIEG/PITX2 gene product.CONCLUSION: Autosomal dominant iris hypoplasia is caused by a defect in the same gene that is defective in many cases of Rieger syndrome.