Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly

To the editorKIF5C(NM_004522.2) mutationwas originallyreportedinafamily with congenital microcephalyand frontalpolymicrogyria.Thesepatientscarriedagermlinemosaicmu-tation (p.Glu237Val) [1]. Recently, a mutation affecting thesame residue (p.Glu237Lys) was reported in a patient withpostnatal microcephalyand frontal pachygyria[2]. Pachygyriais considered to be at the less severe end of thespectrum of lissencephalyand encompasses a broader spec-trum of clinical features [3]. Pachygyriaand lissencephalyhave a shared genetic basis (LIS1, DCX, TUBA1A)butpachygyria can also be observed in other conditions (ACTB, ACTG1,RELN,DYNC1H1mutations).However,themajorityof sporadic cases of pachygyriaremains unexplained.