Mutations in NDE1 [OMIM#609449] were reported in children with severe congenital MIC, with brains smaller than 10 SD below the mean, with simplified gyri, and profound developmental handicap with normal body growth. NDE1 is highly expressed in the developing human and mouse cerebral cortex, particularly at the centrosome, and has a role in mitotic spindle assembly during early neurogenesis. Deficiency of NDE1 therefore appears to cause failure of neurogenesis and a deficiency of cortical lamination. We also offer mutation analysis of all 8 coding exons and intron/exon boundaries of NDE1 by direct sequencing of amplification products in both the forward and reverse directions. Sequencing of NDE1 is also offered as part of our Microcephaly Tier 2 Sequencing Panel. Please see our information sheet for more details.
Specimen Types Accepted