In the last 2 years, literature data have shown that variations in protocadherin 12 (PCDH12) gene are related to neurological outcomes. Located at chromosome 5q31, this gene encodes the PCDH12 protein, wich is part of the cadherin superfamily and it is a calcium-dependent cell-adhesion protein. The role of PCDH12 is not yet fully understood in the brain, but evidence shows the importance of nonclustered protocadherins for the normal development of the central nervous system [1].

Knockout mice for the PCDH12 gene are alive and fertile, but, present alterations in the placenta in relation to their morphogenesis, vascularization and transcriptional levels of 2289 genes, contributing to a reduced embryo size and abnormal lens morphology [4]. Different from that reported in humans, in mice, only the homozygous variation is able to develop phenotypes harmful to the animal, heterozygous variation did not cause any harmful consequences.

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