Microcephalin (
MCPH1) is a
gene that is expressed during fetal brain development. Certain
mutations in MCPH1, when
homozygous, cause primary
microcephaly — a severely diminished
brain. Hence it has been assumed that variants have a role in brain development, but in normal individuals no effect on
mental ability or
behavior has yet been demonstrated in either this or another similarly studied microcephaly gene,
ASPM. However, an association has been established between normal variation in brain structure as measured with MRI (i.e., primarily
cortical surface area and total brain volume) and common genetic variants within both the MCPH1 gene and another similarly studied microcephaly gene, CDK5RAP2.