Azuma N, Yamada M
Department of Ophthalmology, National Children's Hospital, Tokyo, Japan.
Invest Ophthalmol Vis Sci. 1998 Apr;39(5):828-30.
To report a rare case of ocular anterior segment anomalies including uveal ectropion of the iris, invasion of the conjunctival epithelia into the cornea, and posterior embryotoxon with a missense mutation of the PAX6 gene.
The authors performed polymerase chain reaction-single-strand conformation polymorphism analysis and sequencing of the PAX6 gene using genomic DNA of family members and more than 100 control subjects.
The A to G transition at nucleotide 1682 in exon 13 in the patient was identified in an allele that resulted in a Gln to Arg substitution (Q422R) at the C terminus of the protein. The mutation was not found in the parents, a sibling, or control subjects.
The mutation indicates that the proline-serine-threonine-rich domain at the C terminus of the PAX6 protein plays a role in ocular anterior segment morphogenesis.
报告一例罕见的眼前段异常病例，包括虹膜葡萄膜外翻、结膜上皮侵入角膜以及伴有PAX6基因错义突变的后胚胎环。
作者使用家庭成员和100多名对照受试者的基因组DNA进行聚合酶链反应-单链构象多态性分析和PAX6基因测序。
在患者第13外显子核苷酸1682处发现A到G的转换，该等位基因导致蛋白质C末端的谷氨酰胺到精氨酸替换（Q422R）。在父母、兄弟姐妹或对照受试者中未发现该突变。
该突变表明PAX6蛋白C末端富含脯氨酸-丝氨酸-苏氨酸的结构域在眼前段形态发生中起作用。
