A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A

ConclusionFindings support the pathogenic link between KIF2A mutation and lissencephaly, and expand the range of presentation to include infantile spasms and congenital anomalies.

Microtubules play critical roles in cerebral cortical development and mutations in genes that encode tubulins or a spectrum of proteins involved in the regulation of microtubule dynamics lead to malformations of cortical development including lissencephaly. Here, we describe a patient with lissencephaly, developmental delay, nystagmus, persistent hyperplastic primary vitreous, and infantile spasms, found to have a novel de novo mutation in kinesin‐13 protein 2 (KIF2A). KIF2AT320I exhibited abnormal solubility, and overexpression in cultured cells led to the formation of aberrant microtubule networks.

Source: Molecular Genetics & Genomic Medicine - August 31, 2016 Category: Genetics & Stem Cells Authors: Guoling Tian, Ana G. Cristancho, Holly A. Dubbs, Grant T. Liu, Nicholas J. Cowan, Ethan M. Goldberg Tags: Original Article Source Type: research