Martha A, Ferrell R E, Mintz-Hittner H, Lyons L A, Saunders G F
Department of Biochemistry and Molecular Biology, University of Texas M. D. Anderson Cancer Center, Houston 77030.
Am J Hum Genet. 1994 May;54(5):801-11.
Aniridia, an autosomal dominant ocular disorder characterized by iris hypoplasia, results from mutations in the PAX6 gene, which encodes paired box and homeobox motifs. In this report we describe five new mutations in the paired box region of the human PAX6 gene that are associated with aniridia. The paired box mutations that we detected were in both familial (three) and sporadic (two) cases. All five mutations predict truncated PAX6 proteins. Our study indicates that early premature translational termination mutations in the PAX6 gene result in haploinsufficiency and generate the aniridia phenotype.
无虹膜症是一种常染色体显性眼病，其特征为虹膜发育不全，由编码配对盒和同源异型盒基序的PAX6基因突变所致。在本报告中，我们描述了人类PAX6基因配对盒区域的五个新突变，这些突变与无虹膜症相关。我们检测到的配对盒突变存在于家族性（三例）和散发性（两例）病例中。所有五个突变均预测会产生截短的PAX6蛋白。我们的研究表明，PAX6基因中的早期提前翻译终止突变导致单倍剂量不足，并产生无虹膜症表型。
