Department of Neuropathology, Institute of Psychiatry and Neurology, 9 Sobieskiego, 02-957 Warsaw, Poland.
Folia Neuropathol. 2009;47(4):372-82.
PPAX6 is an important transcription factor which plays an essential role in brain morphogenesis and eye development. It is related to migration of neuroblasts to the cerebral cortex and deep telencephalic nuclei, and the specification of cellular and regional identity. Disturbances of brain development in two sib fetuses whose parents were aniridic (both sporadic cases) are reported. Molecular analysis in both parents has shown different mutations in PAX6 gene and a compound heterozygosity for two PAX6 mutations in both fetuses. Neuropathologically both cases showed severe brain malformations with increased germinal proliferation, gross disturbances of migration and organization of the CNS.
PPAX6 是一种重要的转录因子，在脑形态发生和眼睛发育中发挥着重要作用。它与神经母细胞迁移到大脑皮层和深部端脑核以及细胞和区域身份的特化有关。报道了两例父母为虹膜缺失（均为散发病例）的同胞胎儿的脑发育障碍。对两位父母的分子分析显示，PAX6 基因存在不同的突变，而两名胎儿均存在两种 PAX6 突变的复合杂合性。神经病理学检查显示，两种病例均表现出严重的脑畸形，生殖细胞增殖增加，CNS 迁移和组织严重紊乱。
