PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation
复制标题
DOI：
10.1034/j.1399-0004.2001.600210.x
复制
发表时间：
2001-08-01
影响因子：
3.5
通讯作者：
Renieri, A
中科院分区：
文献类型：
--
作者：
Malandrini, A;Mari, F;Renieri, A
先天性无虹膜是由于PAX6基因的缺失和点突变造成的。我们在这里描述一位母亲和她的两个儿子患有先天性虹膜无虹膜、上睑下垂和轻度智力低下综合征的病例。儿子们也表现出行为上的变化。通过多态研究和荧光原位杂交分析，排除了PAX6基因座周围缺失的可能性。PAX6基因的突变筛查显示存在一个颠换的C719A，导致第119位的丝氨酸被精氨酸取代。我们认为，这种错义突变是导致无虹膜和上睑下垂的原因，也可能是该家族中观察到的认知功能障碍的原因。
Congenital aniridia is due to deletions and point mutations in the PAX6 gene. We describe here a case of a mother and her two sons with a syndrome comprising congenital aniridia, ptosis, and slight mental retardation. The sons also show behavioral changes. The possibility of deletion around the PAX6 locus was excluded by polymorphism studies and fluorescence in situ hybridization analysis. Mutation screening of the PAX6 gene revealed the presence of a transversion C719A, resulting in the substitution of arginine for serine at residue 119. We suggest that this missense mutation is responsible both for aniridia and ptosis, and possibly also for the observed cognitive dysfunction in this family.