PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans
PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans
复制标题
DOI：
10.1038/90042
复制
发表时间：
2001-07-01
期刊：
影响因子：
30.8
通讯作者：
van Heyningen, V
中科院分区：
文献类型：
--
作者：
Sisodiya, SM;Free, SL;van Heyningen, V
Pax6在中枢神经系统中广泛表达。人类无虹膜中的杂合PAX6突变会导致似乎仅限于眼睛的缺陷(1)。磁共振成像(MRI)和嗅觉测试显示，在很大比例的无虹膜病例中，前连合缺失或发育不良，嗅觉减少，这表明PAX6单倍体不足导致更广泛的人类神经发育异常。
PAX6 is widely expressed in the central nervous system. Heterozygous PAX6 mutations in human aniridia cause defects that would seem to be confined to the eye(1). Magnetic resonance imaging (MRI) and smell testing reveal the absence or hypoplasia of the anterior commissure and reduced olfaction in a large proportion of aniridia cases, which shows that PAX6 haploinsuffiency causes more widespread human neuro developmental anomalies.