The FAT1 gene (OMIM *600796) encodes FAT atypical cadherin 1, a cell adhesion molecule that is important for cell migration, polarity, and cell-cell adhesion[1]. The FAT1 protein is broadly expressed and is predominant in the embryonic brain and other epithelial tissues[1,2]. Homozygous Fat1-knockout (KO) mice exhibit holoprosencephaly, anophthalmia, and perinatal lethality[3], suggesting an essential role of FAT1 in foetal growth. In humans, FAT1 variants have been reported in patients with disorders of the multisystem, including the central nervous system[4].
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